Canonical Allele Identifier: PA320497
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213366
ClinVar RCV Id: RCV000196087 RCV000810864
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Gln2648Lys
CA320496
NM_001999.4:c.7942C>A