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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Met298_Glu308delinsTrpLeuGluThrAlaGlyThrGlyGlnMetAsn;Ile310Ser;Glu312_Cys313delinsSerAla;Gly314_Thr315insPro;Glu317_His327delinsAlaTrpThrThrThrAlaAlaValProThr]
CA2017997786
NM_000527.5:c.892del