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_000020.11:g.48763274G>C , CM000682.2:g.48763274G>C	GRCh38
NC_000020.10:g.47379811G>C , CM000682.1:g.47379811G>C	GRCh37
NC_000020.9:g.46813218G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000371941.4:c.220-15394C>G MANE Select	ENSP00000361009.3:n.220-15394C>G
ENST00000371941.3:c.220-15394C>G	ENSP00000361009.3:n.220-15394C>G
NM_020820.3:c.220-15394C>G	NP_065871.2:n.220-15394C>G
NM_020820.4:c.220-15394C>G MANE Select	NP_065871.3:n.220-15394C>G