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
NP_000129.3:p.Ser2855Arg
CA392318494
NM_000138.5:c.8565T>G
CA392318495
NM_000138.5:c.8565T>A
CA392318500
NM_000138.5:c.8563A>C