Canonical Allele Identifier: PA2573163241
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1380215
ClinVar RCV Id: RCV001886257

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1444Trp
CA392317538
NM_000138.5:c.4332T>G