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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Leu527_Leu531delinsSerSerThr;Gln533Ser;Arg535_Ala537delinsSerGln;Ala539_Thr543delinsArgLeuArgLeu;Glu545_Val549delinsTrpProProArg;Leu551_Val553delinsHisProPro;Ser555_Thr556delinsGly]
CA2573320554
NM_001195803.2:c.1578del