Allele Registry

Canonical Allele Identifier: PA645404453

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000769646

RCV001063194

RCV003476879

ClinVar Variation:

264089

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys875Tyr	CA10587846 NM_000138.5:c.2624G>A