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.Ser1508Arg
CA392353549
ENST00000559133.6:c.4524C>G
CA392353554
ENST00000559133.6:c.4524C>A
CA392353566
ENST00000559133.6:c.4522A>C