Allele Registry

Canonical Allele Identifier: PA658660322

Gene: FBN1 HGNC NCBI

ClinVar Allele:

465251

ClinVar RCV:

RCV000557419

ClinVar Variation:

457157

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys360Tyr	CA392347507 NM_000138.5:c.1079G>A