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_000005.10:g.1423802G>T , CM000667.2:g.1423802G>T	GRCh38
NC_000005.9:g.1423917G>T , CM000667.1:g.1423917G>T	GRCh37
NC_000005.8:g.1476917G>T	NCBI36
NG_015885.1:g.26627C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000270349.12:c.654-1788C>A MANE Select	ENSP00000270349.9:n.654-1788C>A
ENST00000270349.11:c.654-1788C>A	ENSP00000270349.9:n.654-1788C>A
NM_001044.4:c.654-1788C>A	NP_001035.1:n.654-1788C>A
NM_001044.5:c.654-1788C>A MANE Select	NP_001035.1:n.654-1788C>A