Allele Registry

Canonical Allele Identifier: PA658800579

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000632029

RCV000663531

RCV003162803

ClinVar Variation:

527217

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys781Tyr	CA392335455 NM_000138.5:c.2342G>A