Canonical Allele Identifier: PA913191817
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 625121
ClinVar RCV Id: RCV000766247

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Phe1346Val
CA392320513
NM_000138.5:c.4036T>G