Canonical Allele Identifier: PA645404480
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 431935
ClinVar RCV Id: RCV000498470 RCV000663566 RCV001198272 RCV002279274
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys890Tyr
CA392331935
NM_000138.5:c.2669G>A