Allele Registry

Canonical Allele Identifier: PA645403924

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000493552

RCV001376849

ClinVar Variation:

406269

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys271Gly	CA16614684 NM_000138.5:c.811T>G