Canonical Allele Identifier: PA2825058591
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1741306
ClinVar RCV Id: RCV002340074 RCV003775914
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1513Gly
CA269552303
NM_000138.5:c.4537T>G