Canonical Allele Identifier: PA658800676
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 522678
ClinVar RCV Id: RCV000625823 RCV002271540
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Arg315Trp
CA9461307
NM_000709.4:c.943C>T