Allele Registry

Canonical Allele Identifier: PA288819

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000117020

RCV000342582

RCV000589118

RCV001701751

RCV002277162

RCV002277163

RCV002310661

RCV002490793

ClinVar Variation:

129039

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Val965Ile	CA288818 NM_001999.4:c.2893G>A