Canonical Allele Identifier: PA354916
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 224061
ClinVar RCV Id: RCV000209523
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Thr322Ala
CA354915
NM_000056.5:c.964A>G