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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453346.1:p.[Asp748del;Ser750_Leu752delinsPro;Ala755_Pro757delinsCysLeu;Leu759_Met767delinsProProLeuGly;His769_Gly777delinsProArgTrpArg]
CA2695238658
ENST00000558013.5:c.2241del