Canonical Allele Identifier: PA916008909
Gene: BCKDK HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005872.2:p.Asn119Lys
CA395656992
NM_005881.4:c.357C>A
CA395656996
NM_005881.4:c.357C>G