Canonical Allele Identifier: PA658665168
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 457143
ClinVar RCV Id: RCV000526694 RCV001834747
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Arg117Cys
CA9461092
NM_000709.4:c.349C>T