Canonical Allele Identifier: PA2573163385
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1453641
ClinVar RCV Id: RCV002002520

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1947Ser
CA392340090
NM_000138.5:c.5840G>C
CA392340091
NM_000138.5:c.5839T>A