Canonical Allele Identifier: PA915959670
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 803090

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1350Arg
CA16616744
NM_000138.5:c.4048T>C