Canonical Allele Identifier: PA221218
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93373
ClinVar RCV Id: RCV000079255
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Thr273Ala
CA221217
NM_000709.4:c.817A>G