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.[Ser2047_Tyr2062delinsProProValGluGluGly;Phe2065_Lys2069delinsIle;Ser2071_Arg2076delinsGlu]
CA916082413
ENST00000316623.9:c.6139del