Canonical Allele Identifier: PA282261
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42395
ClinVar RCV Id: RCV000035237 RCV001384076
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1947Tyr
CA016110
NM_000138.5:c.5840G>A