Canonical Allele Identifier: PA224243
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96565
ClinVar RCV Id: RCV000082722 RCV001854442
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.Leu353Val
CA224241
NM_183050.3:c.1057C>G