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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.[Asp375_Ser377delinsAla;Tyr379_Ile383delinsArgValHisGln;Asn385_Ala397delinsHisProGlnProGluGluArgGlyArg;Asn399_Asp405delinsGlyHisGlyGlyGlyGlnGln]
CA1139532853
ENST00000560467.2:c.1124_1125del