Canonical Allele Identifier: PA2827026601
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96595
ClinVar RCV Id: RCV000082753 RCV001831891 RCV001857396
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Arg113Trp
CA224315
NM_001318975.1:c.337C>T