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
NP_000700.1:p.Lys445_Ter446insCysAspLeuLeuSerProProProProIleLeuSerTyrProGluArg
CA406015897
NM_000709.4:c.1338A>C
CA406015902
NM_000709.4:c.1338A>T