This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: BCKDHA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000416000.2:p.Asn229Lys
CA406012875
ENST00000457836.6:c.687C>G
CA406012877
ENST00000457836.6:c.687C>A