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: PA645466560

Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265162

ClinVar RCV Id: RCV000254956 RCV000417089 RCV000525742

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121120.1:p.Arg214His	CA10588398 NM_001127648.2:c.641G>A