Canonical Allele Identifier: PA221183
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93344
ClinVar RCV Id: RCV000180522 RCV000790815 RCV000853374 RCV002514392
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Val412Met
CA221182
NM_000709.4:c.1234G>A