Canonical Allele Identifier: PA2825058185
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2949928
ClinVar RCV Id: RCV003807286

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser1215Pro
CA392324510
NM_000138.5:c.3643T>C