Canonical Allele Identifier: PA2825058623
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2920902
ClinVar RCV Id: RCV003736447 RCV003779376
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1526Arg
CA392353308
NM_000138.5:c.4576T>C