Allele Registry

Canonical Allele Identifier: PA658661322

Gene: FBN1 HGNC NCBI

ClinVar Allele:

464858

ClinVar RCV:

RCV000560403

RCV000995330

RCV001177890

RCV002506299

RCV004003795

ClinVar Variation:

457260

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gln2467Arg	CA058511 NM_000138.5:c.7400A>G