Canonical Allele Identifier: PA915959768
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 652226
ClinVar RCV Id: RCV000807744

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1525Asp
CA392353315
NM_000138.5:c.4574G>A