Canonical Allele Identifier: PA1139673877
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 946172
ClinVar RCV Id: RCV001216980
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1086Gly
CA392327453
NM_000138.5:c.3256T>G