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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Phe489_Asn491delinsHisGlnProAla;His493_Asp501delinsGlyGlnGluAspAspAlaGlyProGlu;Ser503_Ile509delinsValHisGlnProHisProGln;Asn511_Leu512delinsGluGlu;Asn514_Leu518delinsGlyArgSer]
CA10585354
ENST00000252444.10:c.1464_1465del