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.[Val1555_Val1557del;Lys1559_Ser1561delinsTrp;Cys1563_Cys1564delinsPheGln;Ser1565_Leu1566insPhe;Gly1567_Trp1570delinsLeuLeuPheSer;Thr1572_Ser1583del]
CA2695220594
ENST00000674301.2:c.4661dup