Canonical Allele Identifier: PA658825899
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549147
ClinVar RCV Id: RCV000663619
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1086Arg
CA392327455
NM_000138.5:c.3256T>C