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: PA645396978

Gene: GABRB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 372868

ClinVar RCV Id: RCV000413814 RCV003766150

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_068712.1:p.Ile280Phe	CA16042907 NM_021912.4:c.838A>T