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
ENSP00000453346.1:p.[Leu802_Val806delinsAlaTrpGlySerSer;Leu808_Asn819delinsTyrGlyArgThrGlyGlyLeuArgThrSerThrAla;Ile821_Asn825delinsThrLeuThrThr;Val827_Thr832delinsSerIleArgArgPro]
CA10585854
ENST00000558013.5:c.2403_2406del