Canonical Allele Identifier: PA2825057965
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2572629
ClinVar RCV Id: RCV003314514
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1039Arg
CA392328172
NM_000138.5:c.3115T>C