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: PA915967923

Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 127074

ClinVar RCV Id: RCV000114937 RCV000153292 RCV000705072 RCV000623344 RCV000760281

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121120.1:p.Arg112Gln	CA151360 NM_001127648.2:c.335G>A