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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.[Thr673_Thr681del;Glu683_Val687delinsArgLeu;Lys690_Val696delinsGlnTrpProProArg;Thr698_Thr702delinsHisProProSerGly]
CA2695228179
ENST00000560467.2:c.2017del