Canonical Allele Identifier: PA2573163418
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1366927
ClinVar RCV Id: RCV001932367
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2011Arg
CA392339502
NM_000138.5:c.6031T>C