Canonical Allele Identifier: PA2825058337
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2095105
ClinVar RCV Id: RCV003012174

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala1330Val
CA392320614
NM_000138.5:c.3989C>T