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: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Asn316_Asp331delinsLysAsnAlaTrpThrThrThrAlaAlaValProThrSerAlaMetThr;Lys333_Cys340delinsArgSerAlaThrSerAlaCysAla;Asp342_Leu346delinsThrAlaSerSer]
CA645509272
ENST00000558518.6:c.948del