Canonical Allele Identifier: PA093408
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 65771
ClinVar RCV Id: RCV000056009 RCV000762424 RCV000587416
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Gly278Ser
CA224347
NM_000056.5:c.832G>A