Canonical Allele Identifier: PA2573163212
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1325419
ClinVar RCV Id: RCV002226556

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1374Gly
CA392320311
NM_000138.5:c.4120T>G