Canonical Allele Identifier: PA126539
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16465
ClinVar RCV Id: RCV000017929

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1086Tyr
CA013941
NM_000138.5:c.3257G>A