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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Gln60_Ser65delinsValProGlyAspValLeu;Thr67_Ser70delinsCysHisLeuGlnIleArg;Asp72_Cys75delinsLeuGlnLeuTrp;Gly77_Arg88delinsProCysGlnProLeuHisSerSerValLeuGluVal]
CA2695223180
ENST00000560467.2:c.173_176dup