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.[His333_Val335delinsProAla;Ser337_Asp339delinsLeuProMet;Val341_Ile342delinsProSer;Arg344_Ala348delinsAlaGluThrSerArg;Asp350_Asp355delinsProThrGlyTrpLeu;Ile357_His358delinsThrGly;Asn360_Tyr362delinsThrAlaThrSerThr]
CA2695228176
NM_001195803.2:c.998del