Canonical Allele Identifier: PA2825059229
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2579846
ClinVar RCV Id: RCV003328821

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala1965Gly
CA392339966
NM_000138.5:c.5894C>G