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: PA2825039311

Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 992181

ClinVar RCV Id: RCV001280515 RCV003323846

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Pro27Ser	CA3902490 NM_000056.5:c.79C>T