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.Leu2869Phe
CA269518590
ENST00000316623.9:c.8607G>C
CA392318402
ENST00000316623.9:c.8607G>T