Allele Registry

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Canonical Allele Identifier: PA2825039349

Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1069097

ClinVar RCV Id: RCV001380845

ClinVar Variation Id: 1454198

ClinVar RCV Id: RCV001941750

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Gly66Arg	CA364658456 NM_000056.5:c.196G>A CA364658458 NM_000056.5:c.196G>C