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.[Glu1220_Phe1227delinsAsnVal;Leu1229_Gln1233delinsValSer;Ser1235_Thr1237del;Ile1239_Cys1249delinsLeuHis]
CA2695220671
ENST00000674301.2:c.3658del