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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.[Ser213_Gly219delinsAlaGlyAlaValMetValAla;Asp221_Cys231delinsThrAlaArgThrAsnLeuThrArgLysThr;Val233_Gln242delinsLeuTrpProProValAlaLeuThrAsnSer]
CA2695238670
NM_001195798.2:c.636del