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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.Asn391Lys
CA3902862
NM_000056.5:c.1173C>G
CA365021648
NM_000056.5:c.1173C>A