Canonical Allele Identifier: PA2499228953
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1171268
ClinVar RCV Id: RCV001524226
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr2508Ala
CA392325928
NM_000138.5:c.7522A>G