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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Pro478_Gly488delinsHisThrGlnGlnGlyProSerTrpTrpIleLeu;Tyr491_Trp492delinsAlaSerCys;Asp494_Trp495delinsGlyLeuThr;Thr497delinsGluLeu;Ala499_Lys502delinsProArgSerArg;Gly505_Asn507delinsAla]
CA2813598416
NM_001195799.2:c.1432_1433insACACCCAA