Canonical Allele Identifier: PA304200
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200069

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1934Tyr
CA016083
NM_000138.5:c.5801G>A