Allele Registry

Canonical Allele Identifier: PA658660866

Gene: FBN1 HGNC NCBI

ClinVar Allele:

464927

ClinVar RCV:

RCV000553382

RCV001560459

RCV002245995

RCV002314921

ClinVar Variation:

457202

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1348Tyr	CA392320494 NM_000138.5:c.4043G>A