Canonical Allele Identifier: PA2825058333
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1713708
ClinVar RCV Id: RCV002303065

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala1330Pro
CA392320616
NM_000138.5:c.3988G>C