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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Cys68_Ser70delinsTrpGlnIleArg;Asp72_Cys75delinsLeuGlnLeuTrp;Gly77_Asn97delinsProCysGlnProLeuHisSerSerValLeuGluValArgTrpProSerGlyLeuArgGlnArg]
CA2573050563
NM_001195798.2:c.203dup