Canonical Allele Identifier: PA658826139
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549460
ClinVar RCV Id: RCV000664020

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile2777Thr
CA392319575
NM_000138.5:c.8330T>C