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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.[Leu371_His388delinsArgThrTrpArgValAlaThrSerAlaSerValArgLysAlaSerSerTrpThrPro;Lys390delinsArgArgPro;Cys392_Gly396delinsArgLeuTrpAlaPro;Ile398_Tyr400delinsProThr]
CA2573050592
NM_001195798.2:c.1107_1111dup