Allele Registry

Canonical Allele Identifier: PA658800825

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000663838

RCV002265820

RCV002313276

RCV003767803

ClinVar Variation:

519792

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1984Tyr	CA392339832 NM_000138.5:c.5951G>A