Canonical Allele Identifier: PA121793
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 11938
ClinVar RCV Id: RCV003534309 RCV003460460
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.His206Tyr
CA121791
NM_183050.3:c.616C>T