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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453346.1:p.[Cys68_Ser70delinsTrpGlnIleArg;Asp72_Cys75delinsLeuGlnLeuTrp;Gly77_Asn97delinsProCysGlnProLeuHisSerSerValLeuGluValArgTrpProSerGlyLeuArgGlnArg]
CA2573050563
ENST00000558013.5:c.203dup