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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.[Ala50_Ser64delinsLeuSerAlaArgMetAlaLeuMetSerProArgArgArgAlaPro;Lys66_Glu72delinsArgArgAlaProArgThrSer;Arg74_Asp77delinsAlaAlaThrMet;Lys79Ser]
CA10584768
NM_001195799.2:c.148del