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.Cys2674Ser
CA392322608
ENST00000316623.9:c.8021G>C
CA392322614
ENST00000316623.9:c.8020T>A