Canonical Allele Identifier: PA1139692472
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 982806
ClinVar RCV Id: RCV001262490
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.His247Arg
CA406012849
NM_001164783.2:c.740A>G