Canonical Allele Identifier: PA2580106255
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2152237
ClinVar RCV Id: RCV003079193

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1333Tyr
CA392320592
NM_000138.5:c.3998G>A