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
ENSP00000437639.1:p.[Gln328Ser;Asp330_Val335delinsThrGluProThrAla;Ser337_Asp339delinsLeuProMet;Val341_Ile342delinsProSer;Arg344_Ala348delinsAlaGluThrSerArg;Asp350delinsProThr;Leu352_Ile357delinsTrpLeuTrpThrGlySer]
CA10585427
ENST00000545707.5:c.982del