Canonical Allele Identifier: PA658800663
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527181

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1344Glu
CA392320523
NM_000138.5:c.4031G>A