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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Ala643del;Gln645_Asn647del;His649_Cys657delinsLeuAlaGlnValTyrLeuArgLeu;Asp659del;Met661_Leu663delinsArgHisAla;Arg665_Cys670delinsGlyGlnGlyHisGluGlu;Thr672_Ala676delinsProHisArgGly]
CA10585746
NM_001195799.2:c.1927_1940del