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
NP_001182732.1:p.[Trp316_Ile324del;Ser326_Gln328del;Asp330_Asp339del;Val341_Ser343delinsCysPro;Asp345_Ile346delinsGlu]
CA2573050597
NM_001195803.2:c.948del