Canonical Allele Identifier: PA891845394
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 566815
ClinVar RCV Id: RCV000686731

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1937Glu
CA392340190
NM_000138.5:c.5810G>A