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: PA915967982

Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 127075

ClinVar RCV Id: RCV000114938

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121120.1:p.Lys306Thr	CA151361 NM_001127648.2:c.917A>C