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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Leu582del;Ile585_Asn594delinsLeuHisLeuLysHisArgCysGln;Lys596_Leu599delinsGlyGlnPro;Glu602_Arg604delinsHis;Ala606_Leu611delinsGlyGly]
CA645373243
ENST00000557933.5:c.1744_1745insA