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.Phe2764Leu
CA392319847
NM_000138.5:c.8292T>G
CA392319851
NM_000138.5:c.8292T>A
CA392319874
NM_000138.5:c.8290T>C