Canonical Allele Identifier: PA1139675881
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 939999
ClinVar RCV Id: RCV001209489
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1916Phe
CA392341176
NM_000138.5:c.5747G>T