Canonical Allele Identifier: PA2827026665
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96608
ClinVar RCV Id: RCV000180018 RCV000586350 RCV000790839
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Val181Ala
CA224341
NM_001318975.1:c.542T>C