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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[His690_Ser691delinsThrArg;Lys693_Cys696delinsSerLeuPro;Cys698del;Asp700_Leu704del;Asp707_Ser710delinsThrAlaCys;Leu712_Val719delinsTrpProGlyThr]
CA10585759
NM_001195798.2:c.2068del