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.[Ser445_Arg447delinsTrpProPro;Tyr449_Lys454del;His456_Asn464del;Gly466_Asp474del]
CA2582475118
NM_001195803.2:c.1333_1334del