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: PA2825647998

Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 802172

ClinVar RCV Id: RCV000987626

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121117.1:p.Asp90Asn	CA362178682 NM_001127645.2:c.268G>A