Allele Registry

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Canonical Allele Identifier: PA2825039513

Gene: BCKDHB HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Thr273Ile	CA3902766 NM_000056.5:c.818C>T