Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2825647319

Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419523

ClinVar RCV Id: RCV000478430

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121115.1:p.Gly251Asp	CA16618156 NM_001127643.2:c.752G>A