Canonical Allele Identifier: PA658825782
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 548999
ClinVar RCV Id: RCV000663437 RCV001170324 RCV002245070 RCV001855410
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg344Cys
CA043398
NM_000138.5:c.1030C>T