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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453346.1:p.[Glu31_Asp36delinsSerSerSerAlaLysThr;Lys38_Ile40delinsAsnAlaSerProThr;Tyr42_Gly48delinsGlySerAlaMetAlaAlaLeu;Glu51_Gly55delinsArgMetAlaLeuMet;Asp57_Gln60delinsProArg]
CA2695223173
ENST00000558013.5:c.91del