Allele Registry

Canonical Allele Identifier: PA645465066

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000290426

RCV000659629

RCV000696153

RCV001199020

RCV002374485

ClinVar Variation:

289728

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Ala2328Ser	CA3394257 NM_001999.4:c.6982G>T