Canonical Allele Identifier: PA2825058500
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3230417
ClinVar RCV Id: RCV004520568

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1444Phe
CA392317540
NM_000138.5:c.4331G>T