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) Transcript change
ENSP00000501333.2:p.Asn2144Ser
ENST00000674301.2:c.6431A>G