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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.[Gly660_Leu663del;Arg665_Ser669delinsCys;Leu671_Ala679delinsTrpProGly;Gln681_Lys689del]
CA2573050620
NM_001195799.2:c.1979del