Canonical Allele Identifier: PA645404191
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 377096
ClinVar RCV Id: RCV000439856 RCV001861486
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys596Gly
CA16603266
NM_000138.5:c.1786T>G