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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.[Gln84_Glu99delinsHisValThrGlnThrGlyThrAlaTrpThrAlaGlnThrArgProPro;Ser101Arg;Cys102_Pro103insSer;Leu105_Gly108delinsValPro;Phe112_Asn115delinsSerAlaThr;Ser117del]
CA2582473458
NM_001195799.2:c.252_258del