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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Gly425_Glu434delinsAlaThrGlyArgProSerTrpArgMet;Leu437_Phe441delinsGlyTrpProThrPro;Leu443_Asp448delinsProTrpProSerLeuArgThr;Val450Tyr;Trp452_Asp454delinsGlyGlnIle]
CA10585606
NM_001195800.2:c.1274del