Allele Registry

Canonical Allele Identifier: PA321482

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000197044

RCV001473209

RCV002277538

RCV003323445

ClinVar Variation:

213434

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Arg126His	CA321481 NM_001999.4:c.377G>A