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.[Glu257_Cys258delinsGlyVal;Ile260_Thr273delinsHisHisLeuLeuLeu;Thr275_Ser276del;Tyr279_Ile284delinsTrpLeuArgHisLeuHis;Ala286delinsHisLeu]
CA2585307994
NM_000709.4:c.769dup