Canonical Allele Identifier: PA2825058487
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2937682
ClinVar RCV Id: RCV003794312

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1434Cys
CA392317639
NM_000138.5:c.4300G>T