Allele Registry

Canonical Allele Identifier: PA325156

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000200568

RCV002278033

RCV002517176

ClinVar Variation:

213309

1702244

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Met1152Ile	CA325155 NM_001999.4:c.3456G>A CA360759806 NM_001999.4:c.3456G>T CA360759808 NM_001999.4:c.3456G>C