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Canonical Allele Identifier: Get Identifier
Gene: BCKDHB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Phe175Leu
CA364657780
NM_000056.5:c.523T>C
CA364657784
NM_000056.5:c.525T>A
CA364657785
NM_000056.5:c.525T>G