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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526313.1:p.[Asp474_His480delinsArgGlyTrpProThrProSer;Phe482delinsTrpPro;Ala485_Asp489delinsArgThr;Val491Tyr;Trp493_Asp495delinsGlyGln;Ile497_Ile501delinsSerSerThrLysPro;Ala504_Asn505delinsValPro]
CA2582475120
XM_011528011.1:c.1419_1425del