Canonical Allele Identifier: PA658800825
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519792
ClinVar RCV Id: RCV000663838 RCV002265820 RCV002313276 RCV003767803
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1984Tyr
CA392339832
NM_000138.5:c.5951G>A