Allele Registry

Canonical Allele Identifier: PA645406327

Gene: FBN1 HGNC NCBI

ClinVar Allele:

400950

ClinVar RCV:

RCV000465552

RCV002393094

ClinVar Variation:

406317

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2509Gly	CA16614786 NM_000138.5:c.7525T>G