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.[Ser404_Asp405del;Ser407_Ile411delinsThr;Ser413_Asp417delinsPro;Ala419_Ile433delinsGlu]
CA16602329
ENST00000560467.2:c.1210del