Canonical Allele Identifier: PA645405181
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 263831
ClinVar RCV Id: RCV000521275 RCV000663716 RCV001374759 RCV002310858
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1444Tyr
CA10587827
NM_000138.5:c.4331G>A