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_000011.10:g.86954748T>G , CM000673.2:g.86954748T>G	GRCh38
NC_000011.9:g.86665790T>G , CM000673.1:g.86665790T>G	GRCh37
NC_000011.8:g.86343438T>G	NCBI36
NG_011752.1:g.5644A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000531380.2:c.285+53A>C MANE Select	ENSP00000434034.1:n.285+53A>C
ENST00000531380.1:c.285+53A>C	ENSP00000434034.1:n.285+53A>C
NM_012193.3:c.285+53A>C	NP_036325.2:n.285+53A>C
NM_012193.4:c.285+53A>C MANE Select	NP_036325.2:n.285+53A>C