Canonical Allele Identifier: PA346349
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180357

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Phe1954Cys
CA016122
NM_000138.5:c.5861T>G