Canonical Allele Identifier: PA915959671
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 803089
ClinVar RCV Id: RCV000989323

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1350Gly
CA392320481
NM_000138.5:c.4048T>G