Allele Registry

Canonical Allele Identifier: PA321567

Gene: FBN2 HGNC NCBI

ClinVar Allele:

209803

ClinVar RCV:

RCV000197124

RCV002515356

RCV003319186

ClinVar Variation:

213290

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Ser893Arg	CA321566 NM_001999.4:c.2679C>G CA360766550 NM_001999.4:c.2679C>A CA360766558 NM_001999.4:c.2677A>C