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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.[Cys1380_Asn1382delinsTrpAspLeu;Met1384_Tyr1387delinsAlaValCysAla;Cys1389_Cys1391del;Glu1393_Cys1402delinsAspThrGlnValMetAlaSerLeuValGln;Asp1404del;Asp1406_Cys1408delinsMet;Glu1410_Asn1411delinsAla;Asn1413_Leu1414delinsArgThr]
CA2695220631
ENST00000674301.2:c.4140_4152del