Canonical Allele Identifier: PA2826004279
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 329368
ClinVar RCV Id: RCV000363793 RCV001828325
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Glu397Lys
CA9461401
NM_001164783.2:c.1189G>A