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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Leu426del;Asn428_Ala431delinsGlyThrTrpSer;Asp433Trp;Glu435_Arg440delinsArgArgTrpProAla;Tyr442_Asp445delinsGluSerThrGly;Ser447_Ile451delinsThr;Ser453_Gln455delinsProArgGlu]
CA2497030034
NM_001195798.2:c.1277del