Canonical Allele Identifier: PA121792
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 11938
ClinVar RCV Id: RCV003534309 RCV003460460
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.His206Tyr
CA121791
NM_000056.5:c.616C>T