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
ENSP00000453958.2:p.[Asp1028del;Asn1030_Lys1033delinsSer;Ile1035_Pro1036del;Leu1038_Cys1044delinsAla;Asn1046_Ile1048del;Ser1050del;Lys1052_Phe1059del]
CA658683898
ENST00000559133.6:c.3081del