Allele Registry

Canonical Allele Identifier: PA245203

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000143896

RCV000199324

RCV000229340

RCV000659593

RCV000724479

RCV002277283

RCV003935229

ClinVar Variation:

155796

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Thr173Ile	CA245202 NM_001999.4:c.518C>T