Canonical Allele Identifier: PA645406463
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 381609
ClinVar RCV Id: RCV000424126 RCV000664005
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly2668Cys
CA16606683
NM_000138.5:c.8002G>T