This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501333.2:p.[Gly1385_Arg1388delinsAspLeuThrAlaVal;Leu1390_Cys1391delinsAlaArg;Glu1393_Cys1402delinsAspThrGlnValMetAlaSerLeuValGln;Asp1404del;Asp1406_Cys1408delinsMet;Glu1410_Asn1411delinsAla;Asn1413_Leu1414delinsArgThr]
CA1139663889
ENST00000674301.2:c.4154del