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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Leu386del;Asn388_Ala391delinsGlyThrTrpSer;Asp393Trp;Glu395_Arg400delinsArgArgTrpProAla;Tyr402_Asp405delinsGluSerThrGly;Ser407_Ile411delinsThr;Ser413_Gln415delinsProArgGlu]
CA2497030034
ENST00000560467.2:c.1157del