Canonical Allele Identifier: PA115511
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 2378
ClinVar RCV Id: RCV001378888
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Phe408Cys
CA115510
NM_001164783.2:c.1223T>G