Canonical Allele Identifier: PA658690590
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495572
ClinVar RCV Id: RCV000588202 RCV002420559
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys711Arg
CA392336329
NM_000138.5:c.2131T>C