Canonical Allele Identifier: PA2825241771
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 2048220
ClinVar RCV Id: RCV002918635
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Arg280Cys
CA9461268
NM_000709.4:c.838C>T