Allele Registry

Canonical Allele Identifier: PA2499233939

Gene: BCKDHA HGNC NCBI

ClinVar Variation Id: 1066997

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Phe409Leu	CA406015366 NM_000709.4:c.1225T>C CA406015370 NM_000709.4:c.1227C>A CA406015371 NM_000709.4:c.1227C>G