Allele Registry

Canonical Allele Identifier: PA658661107

Gene: FBN1 HGNC NCBI

ClinVar Allele:

464887

ClinVar RCV:

RCV000556862

ClinVar Variation:

457237

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1942Gly	CA392340125 NM_000138.5:c.5824T>G