Allele Registry

Canonical Allele Identifier: PA106025

Gene: BCKDK HGNC NCBI

ClinVar RCV:

RCV000032961

ClinVar Variation:

39745

HGVS (amino-acid)	Matching Registered Transcripts
NP_005872.2:p.Arg224Pro	CA130512 NM_005881.4:c.671G>C