Canonical Allele Identifier: PA110251
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93335
ClinVar RCV Id: RCV000180181 RCV000790743
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Arg346Cys
CA221176
NM_000709.4:c.1036C>T