Canonical Allele Identifier: PA110219
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93367
ClinVar RCV Id: RCV000179335 RCV000790736 RCV001831820
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Ala220Val
CA221207
NM_000709.4:c.659C>T