Canonical Allele Identifier: PA658800665
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527200
ClinVar RCV Id: RCV000632000

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1348Trp
CA392320490
NM_000138.5:c.4044T>G