Canonical Allele Identifier: PA916024148
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96576
ClinVar RCV Id: RCV000177427 RCV001162146
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Gly31Asp
CA224266
NM_001318975.1:c.92G>A