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.Cys1860Ser
CA392342271
ENST00000559133.6:c.5579G>C
CA392342284
ENST00000559133.6:c.5578T>A