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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Gln518_Cys530delinsLeuAlaGlnValTyrLeuArgLeu;Asp532del;Met534_Leu536delinsArgHisAla;Arg538_Cys543delinsGlyGlnGlyHisGluGlu;Thr545_Val551delinsProHisArgGly]
CA1139666277
NM_001195800.2:c.1551_1564del