Canonical Allele Identifier: PA645510413
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 439709

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg609Cys
CA045974
NM_000138.5:c.1825C>T