Allele Registry

Canonical Allele Identifier: PA323682

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000199141

RCV001086834

RCV002277520

ClinVar Variation:

213275

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Ser515Thr	CA323681 NM_001999.4:c.1543T>A