Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201029361G>A , CM000663.2:g.201029361G>A	GRCh38
NC_000001.10:g.200998489G>A , CM000663.1:g.200998489G>A	GRCh37
NC_000001.9:g.199265112G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_241170.3:n.423-1217G>A
XR_922405.1:n.961-1217G>A
XR_922406.1:n.1238+747G>A
XR_922407.1:n.1149-1217G>A
XR_922408.1:n.327-1217G>A
XR_922409.1:n.961-1217G>A
XR_922410.1:n.349-1217G>A
XR_922411.1:n.941-1217G>A
XR_922412.1:n.1154+747G>A
XR_922413.1:n.1050+747G>A
XR_922414.1:n.258-1217G>A
XR_922415.1:n.961-1217G>A
XR_922416.1:n.267-1217G>A
XR_922417.1:n.845-1217G>A
XR_922418.1:n.961-1217G>A
XR_922419.1:n.960+3742G>A
XR_922420.1:n.961-1217G>A
XR_001738364.1:n.609+747G>A
XR_001738365.1:n.520-1217G>A
XR_001738366.1:n.332-1217G>A
XR_001738367.1:n.525+747G>A
XR_001738368.1:n.421+747G>A
XR_001738369.1:n.332-1217G>A
XR_001738370.1:n.332-1217G>A
XR_001738371.1:n.331+3742G>A
XR_001738372.1:n.332-1217G>A
XR_922405.3:n.1071-1217G>A
XR_922407.3:n.1259-1217G>A
XR_922408.2:n.332-1217G>A
XR_922410.2:n.341-1217G>A
XR_922414.2:n.250-1217G>A
XR_922416.2:n.259-1217G>A
XR_922417.3:n.955-1217G>A