Allele Registry

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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