Canonical Allele Identifier: PA1139675966
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 915611
ClinVar RCV Id: RCV001170534

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1947Phe
CA392340089
NM_000138.5:c.5840G>T