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
ENSP00000325527.5:p.Asp1479Glu
CA015058
ENST00000316623.9:c.4437C>G
CA392354344
ENST00000316623.9:c.4437C>A