Canonical Allele Identifier: PA2825058335
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1990912
ClinVar RCV Id: RCV002771473

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala1330Thr
CA392320617
NM_000138.5:c.3988G>A