Canonical Allele Identifier: PA658825959
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549215
ClinVar RCV Id: RCV000663706

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1429Ser
CA392317740
NM_000138.5:c.4286G>C
CA392317751
NM_000138.5:c.4285T>A