Allele Registry

Canonical Allele Identifier: PA282237

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000035217

RCV001222442

ClinVar Variation:

42376

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1652Tyr	CA015509 NM_000138.5:c.4955G>A