Canonical Allele Identifier: PA658693708
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495659
ClinVar RCV Id: RCV001215047 RCV001185315 RCV004002413 RCV003488708
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala2714Val
CA059664
NM_000138.5:c.8141C>T