Canonical Allele Identifier: PA2825058437
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2924216
ClinVar RCV Id: RCV003785966

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr1403Ile
CA392319836
NM_000138.5:c.4208C>T