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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.[Phe488_Asn491delinsLeuHisGlnProAla;His493_Asp501delinsGlyGlnGluAspAspAlaGlyProGlu;Ser503_Ile509delinsValHisGlnProHisProGln;Asn511_Leu512delinsGluGlu;Asn514_Ala517delinsGlyArgSer]
CA16609814
ENST00000252444.10:c.1462_1463del