Allele Registry

Canonical Allele Identifier: PA282159

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000035121

RCV001384755

ClinVar Variation:

42288

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys534Tyr	CA012313 NM_000138.5:c.1601G>A