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: PA2825647119

Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205514

ClinVar RCV Id: RCV000187491 RCV001033996

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121115.1:p.Ser4Asn	CA314659 NM_001127643.2:c.11G>A