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
ENSP00000501333.2:p.Gly2195Arg
CA10587804
ENST00000674301.2:c.6583G>A
CA392334797
ENST00000674301.2:c.6583G>C