Canonical Allele Identifier: PA915988913
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 329359
ClinVar RCV Id: RCV000363085 RCV001833460
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Gln53His
CA9461012
NM_001164783.2:c.159G>C
CA406004638
NM_001164783.2:c.159G>T