Canonical Allele Identifier: PA2825059322
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1751692
ClinVar RCV Id: RCV002360240
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2038Phe
CA392338201
NM_000138.5:c.6113G>T