Canonical Allele Identifier: PA2826004236
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 1515342
ClinVar RCV Id: RCV002021020
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Ser336Arg
CA406013765
NM_001164783.2:c.1006A>C
CA406013771
NM_001164783.2:c.1008C>A
CA406013772
NM_001164783.2:c.1008C>G