Canonical Allele Identifier: PA319709
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 210998
ClinVar RCV Id: RCV000193392 RCV000395130 RCV002314815 RCV001721251
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Asn2184Ile
CA319708
NM_001999.4:c.6551A>T