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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Asp580del;Ser582_Leu584delinsPro;Ala587_Pro589delinsCysLeu;Leu591_Met599delinsProProLeuGly;His601_Ala608delinsProArgTrpArg]
CA2497030104
ENST00000455727.6:c.1734del