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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Ile608_Gly615delinsMetTrpTrpIleLeu;Tyr618_Gly623delinsAlaSerCysThrGlyLeu;Pro625_Asn634delinsGlyGluLeuProProArgSerArgLys;Val636_Ile638delinsAla]
CA645373234
ENST00000252444.10:c.1824del