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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Phe402_Asn405delinsLeuHisGlnProAla;His407_Asp415delinsGlyGlnGluAspAspAlaGlyProGlu;Ser417_Ile423delinsValHisGlnProHisProGln;Asn425_Leu426delinsGluGlu;Asn428_Ala431delinsGlyArgSer]
CA16609814
ENST00000557933.5:c.1204_1205del