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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501333.2:p.[His1336_Ala1337delinsLeuTyr;Cys1339_Gly1344delinsProIleGlnGlnGluAla;Phe1346_Ser1351delinsAsnValAlaAlaVal;Trp1354_Glu1366delinsGlyLeuGluMetAlaLeuSerAlaLeuIleTrpThrAsn]
CA2697549055
ENST00000674301.2:c.4007_4010del