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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Leu511_Lys518delinsTyrSerGlyArgThrAla;Arg520_Gly529delinsSerGlnGlyProSerTrpTrpIleLeu;Tyr532_Trp533delinsAlaSerCys;Asp535_Trp536delinsGlyLeuThr;Thr538_Ala540delinsGluLeuPro]
CA645373233
NM_001195798.2:c.1530del