Canonical Allele Identifier: PA2825039465
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 390609
ClinVar RCV Id: RCV000429032 RCV000675115
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Val213Phe
CA16604994
NM_000056.5:c.637G>T