Canonical Allele Identifier: PA658825947
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549200

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1339Tyr
CA392320554
NM_000138.5:c.4016G>A