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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.[Pro642_Asn647delinsLeuProArgArgSerThr;His649_Ser650delinsThrArg;Lys652_Cys655delinsSerLeuPro;Cys657del;Asp659_Leu663delinsAlaArgThr;Arg665_Leu671delinsCysCysTrpProGlyThr]
CA2830763875
NM_001195799.2:c.1925del