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
ENSP00000453513.2:p.[Ser377_Tyr379del;Ser381_Val390delinsGly;Leu392_Asp393delinsSer;Glu395_Val396delinsPro;Asn399_Trp403del;Asp405_Leu406delinsProThr]
CA10585374
ENST00000560467.2:c.1125_1129dup