Canonical Allele Identifier: PA2825058430
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2773347
ClinVar RCV Id: RCV003528030
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr1401Ala
CA392319924
NM_000138.5:c.4201A>G