Allele Registry

Canonical Allele Identifier: PA658800462

Gene: FBN1 HGNC NCBI

ClinVar Allele:

529000

ClinVar RCV:

RCV000631958

RCV002331115

RCV004003815

ClinVar Variation:

527179

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Met393Val	CA269559834 NM_000138.5:c.1177A>G