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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[His388_Lys393delinsProProThrArgArgPro;Val395_Ile398delinsArgLeuTrp;Tyr400_Phe403delinsProSerPro;Asn405_Asp415delinsSerSerSerProThrGlyThrArgSerGly;Ser417del]
CA645373248
ENST00000557933.5:c.1158_1162dup