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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Arg339_Val354delinsValThr;Cys356_Val357del;Val359Met;Leu361_Cys370delinsAlaArgThr]
CA2573050586
ENST00000252444.10:c.1014_1020del