Canonical Allele Identifier: PA1139675977
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 854432
ClinVar RCV Id: RCV001059489
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1947Gly
CA392340093
NM_000138.5:c.5839T>G