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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526312.1:p.[Asp616_Arg633delinsTyrHisGlnArgSerHisPheGlnCysGlnProProHisArgPheArgCysGln;Thr635Val;Ser637_Asp651del]
CA645373237
XM_011528010.2:c.1846_1865del