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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Ser74_Gly76delinsLysLeuTrp;Arg78_Gly103delinsProCysGlnProLeuHisSerSerValLeuGluValArgTrpProSerGlyLeuArgGlnArgLeuArgArgAlaArg]
CA2573050564
NM_000527.5:c.220dup