Canonical Allele Identifier: PA2825058373
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2773348
ClinVar RCV Id: RCV003528031

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Lys1360Asn
CA392320412
NM_000138.5:c.4080G>T
CA392320413
NM_000138.5:c.4080G>C