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.Glu1430Asp
CA392317707
ENST00000559133.6:c.4290A>T
CA392317711
ENST00000559133.6:c.4290A>C