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.[His837_Tyr847delinsThrPheAlaThrThrArgThrAlaThrAlaThr;Pro848_Ser849insArgTrp;Ser849_Met850insValTrpArg;Val851_Leu853delinsThrTrpArg;Asp855_Asp856delinsHisLeuProGly;Ala858delinsProSer]
CA10585876
ENST00000558013.5:c.2509del