Canonical Allele Identifier: PA282221
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42361

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg1469Pro
CA015037
NM_000138.5:c.4406G>C