Canonical Allele Identifier: PA221178
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93336
ClinVar RCV Id: RCV000180182 RCV000790816
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Arg346His
CA221177
NM_000709.4:c.1037G>A