Allele Registry

Canonical Allele Identifier: PA282294

Gene: FBN1 HGNC NCBI

ClinVar Allele:

51608

ClinVar RCV:

RCV000035283

RCV000181621

ClinVar Variation:

42438

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2652Tyr	CA017477 NM_000138.5:c.7955G>A