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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.[Met702_Ala705del;Asp707_Glu714delinsHis;Glu716del;Ala718_Gln722delinsGlyGlnGlyHisGlu;Thr724_Val727delinsLeuProHis;Leu729_Lys730delinsGly]
CA2580096709
XM_011528010.2:c.2099_2102dup