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_000004.12:g.4862821_4862825dup , CM000666.2:g.4862821_4862825dup	GRCh38
NC_000004.11:g.4864548_4864552dup , CM000666.1:g.4864548_4864552dup	GRCh37
NC_000004.10:g.4915449_4915453dup	NCBI36
NG_008121.1:g.8157_8161dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000382723.5:c.590_594dup MANE Select	ENSP00000372170.4:p.Ile199CysfsTer20
ENST00000382723.4:c.590_594dup	ENSP00000372170.4:p.Ile199CysfsTer20
ENST00000468421.1:n.302_306dup
NM_002448.3:c.590_594dup MANE Select	NP_002439.2:p.Ile199CysfsTer20