Canonical Allele Identifier: PA2825060418
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1721742
ClinVar RCV Id: RCV002294989

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn2791His
CA392319343
NM_000138.5:c.8371A>C