Canonical Allele Identifier: PA2573163028
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1325483
ClinVar RCV Id: RCV002246095

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys887Arg
CA392332030
NM_000138.5:c.2659T>C