Allele Registry

Canonical Allele Identifier: PA304258

Gene: FBN1 HGNC NCBI

ClinVar Allele:

197617

ClinVar RCV:

RCV000181588

RCV000631985

RCV000659575

RCV000766957

RCV001526099

ClinVar Variation:

200102

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly2351Ser	CA016962 NM_000138.5:c.7051G>A