Canonical Allele Identifier: PA1139672622
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 956400

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys570Arg
CA269554328
NM_000138.5:c.1708T>C