Canonical Allele Identifier: PA658826051
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547340

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2164Tyr
CA392336264
NM_000138.5:c.6491G>A