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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.[Gly78_Ile81delinsAlaSerLeuGly;Arg83_Glu99delinsSerSerValThrGlnThrGlyThrAlaTrpThrAlaGlnThrArgProPro;Ser101Arg;Cys102_Pro103insSer;Leu105_Gly108delinsVal]
CA10584870
NM_001195799.2:c.233_239del