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
ENSP00000325527.5:p.[Leu2780_Leu2781delinsPro;Ala2783_Thr2788delinsSerSerSerTyr;His2790_Ile2795delinsSerAsp;Gly2798_Lys2805delinsGlnGlnIleLeuAspArg;Asn2807_Gln2808delinsTrp]
CA916082398
ENST00000316623.9:c.8338dup