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.[Glu1393_Gly1397delinsLys;Gly1399_Phe1400del;Cys1402_Cys1408delinsGlnValMetAla;Glu1410_Asn1413delinsLeuValGlnThr;Cys1415_Asn1422delinsMetSerAlaLeuArgThr]
CA916082395
ENST00000674301.2:c.4177del