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
NP_000129.3:p.[Ser2045_Arg2052delinsPro;Gln2054_Tyr2062delinsProProValGluGluGly;Phe2065_Lys2069delinsIle;Ser2071_Ser2072delinsGlu]
CA2740096629
NM_000138.5:c.6126del