Canonical Allele Identifier: PA658692231
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495623

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1847Tyr
CA392343878
NM_000138.5:c.5540G>A