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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Glu58_Cys63delinsValLeuValCysHis;Ser65_Ser74delinsGlnIleArgGlyLeuGlnLeuTrpGlyPro;Gly76_Phe86delinsGlnProLeuHisSerSerValLeuGluValArg;Arg88_Gly91del]
CA2497030073
NM_001195800.2:c.171_184del