Canonical Allele Identifier: PA354919
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 204377
ClinVar RCV Id: RCV000209700
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Asp282His
CA354918
NM_000709.4:c.844G>C