Canonical Allele Identifier: PA304282
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200115

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2511Arg
CA017244
NM_000138.5:c.7531T>C