Canonical Allele Identifier: PA658825950
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549203

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1350Tyr
CA392320480
NM_000138.5:c.4049G>A