Canonical Allele Identifier: PA304361
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200179
ClinVar RCV Id: RCV000181684 RCV000476718 RCV000585953 RCV000506419 RCV004017458
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys476Gly
CA012151
NM_000138.5:c.1426T>G