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_000002.12:g.61378491dup , CM000664.2:g.61378491dup	GRCh38
NC_000002.11:g.61605626dup , CM000664.1:g.61605626dup	GRCh37
NC_000002.10:g.61459130dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000398571.7:c.1015-67dup MANE Select	ENSP00000381577.2:n.1015-67dup
ENST00000398571.6:c.1015-67dup	ENSP00000381577.2:n.1015-67dup
ENST00000453133.1:c.541-67dup
NM_014709.3:c.1015-67dup	NP_055524.3:n.1015-67dup
NM_014709.4:c.1015-67dup MANE Select	NP_055524.3:n.1015-67dup