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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453696.2:p.[Ile522_Gly529delinsMetTrpTrpIleLeu;Tyr532_Gly537delinsAlaSerCysThrGlyLeu;Pro539_Asn548delinsGlyGluLeuProProArgSerArgLys;Val550_Ile552delinsAla]
CA645373234
ENST00000559340.2:c.1566del