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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.[Tyr378_Ile382delinsLeuHisGlnProHis;Asn384_Thr393delinsGlnProGlu;Val395_Asn398delinsArgGly;Ile400_Ser406delinsSerGlyHisGlyGlyGlyGln]
CA1139666269
ENST00000535915.5:c.1132dup