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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Cys87_Glu99delinsValThrGlnThrGlyThrAlaTrpThrAlaGlnThrArgProPro;Ser101Arg;Cys102_Pro103insSer;Leu105_Gly108delinsValPro;Phe112_Ser116delinsSerAlaThrAla]
CA2580096431
ENST00000535915.5:c.259del