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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.[Cys364_Lys390delinsAlaAlaSerSer;Cys392_Lys393del]
CA2695228149
NM_000527.5:c.1090del