Canonical Allele Identifier: PA916052097
Gene: BCKDHB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.Asn176Lys
CA3902645
NM_183050.3:c.528C>G
CA364657791
NM_183050.3:c.528C>A