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
ENSP00000453958.2:p.Asp1516Glu
CA392353435
ENST00000559133.6:c.4548T>G
CA392353437
ENST00000559133.6:c.4548T>A