Canonical Allele Identifier: PA658800594
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 520494
ClinVar RCV Id: RCV000624915

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly899Glu
CA392331688
NM_000138.5:c.2696G>A