Canonical Allele Identifier: PA916024152
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 11939
ClinVar RCV Id: RCV003534310
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Val49Gly
CA121794
NM_001318975.1:c.146T>G