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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453958.2:p.[Lys1360_Cys1374delinsSerAlaLeuIleTrpThrAsnValProMetGluProIleCysAlaAla;Ser1375_Gln1376insMet;His1377Thr;Asp1379_Cys1389delinsArgIleProTrpAspLeuThrAlaVal]
CA2573150844
ENST00000559133.6:c.4079del