Canonical Allele Identifier: PA2827026592
Gene: BCKDHB HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Asn106Lys
CA3902645
NM_001318975.1:c.318C>G
CA364657791
NM_001318975.1:c.318C>A