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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Arg535_Thr546del;Thr548_Val549delinsArgLeu;Lys552_Val558delinsGlnTrpProProArg;Thr560_Thr565delinsHisProProSerGly]
CA10585707
ENST00000545707.5:c.1605_1606delinsC