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: PA2828450400

Gene: GABRB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 973184

ClinVar RCV Id: RCV001249575

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358656.1:p.Pro252Thr	CA362171639 NM_001371727.1:c.754C>A