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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Asp708del;Ser710_Leu712delinsPro;Ala715_Pro717delinsCysLeu;Leu719_Met727delinsProProLeuGly;His729_Ala736delinsProArgTrpArg]
CA2497030104
ENST00000560467.2:c.2118del