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.Phe1227Leu
CA392324359
ENST00000559133.6:c.3681T>G
CA392324360
ENST00000559133.6:c.3681T>A
CA392324365
ENST00000559133.6:c.3679T>C