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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Leu258del;Asn260_Ala263delinsGlyThrTrpSer;Asp265Trp;Glu267_Arg272delinsArgArgTrpProAla;Tyr274_Asp277delinsGluSerThrGly;Ser279_Ile283delinsThr;Ser285_Gln287delinsProArgGlu]
CA2497030034
NM_001195800.2:c.773del