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
ENSP00000440294.2:p.Ser298Arg
CA392318091
ENST00000537463.6:c.894T>G
CA392318094
ENST00000537463.6:c.894T>A
CA392318112
ENST00000537463.6:c.892A>C