Canonical Allele Identifier: PA2825057459
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2500028
ClinVar RCV Id: RCV003224675

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr655Ile
CA392338885
NM_000138.5:c.1964C>T