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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526312.1:p.[Gln455Ser;Asp457_Val462delinsThrGluProThrAla;Ser464_Asp466delinsLeuProMet;Val468_Ile469delinsProSer;Arg471_Ala475delinsAlaGluThrSerArg;Asp477delinsProThr;Leu479_Ile484delinsTrpLeuTrpThrGlySer]
CA10585427
XM_011528010.2:c.1363del