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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Thr575_Val578delinsProAspLeuPhe;Asp580del;Ser582_Leu584delinsPro;Ala587_Pro589delinsCysLeu;Leu591_Met599delinsProProLeuGly;His601_Leu604delinsProArgTrpArg]
CA10585810
NM_001195800.2:c.1722del