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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526312.1:p.[Asp748del;Ser750_Leu752delinsPro;Ala755_Pro757delinsCysLeu;Leu759_Met767delinsProProLeuGly;His769_Leu776delinsProArgTrpArg]
CA2497030104
XM_011528010.2:c.2238del