Allele Registry

Canonical Allele Identifier: PA353650

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000208225

RCV001071006

ClinVar Variation:

222614

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2590Tyr	CA353648 NM_000138.5:c.7769G>A