Canonical Allele Identifier: PA2825039432
Gene: BCKDHB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Asn176Lys
CA3902645
NM_000056.5:c.528C>G
CA364657791
NM_000056.5:c.528C>A