Allele Registry

Canonical Allele Identifier: PA658661318

Gene: FBN1 HGNC NCBI

ClinVar Allele:

445343

ClinVar RCV:

RCV000519554

RCV001061535

ClinVar Variation:

449435

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2455Tyr	CA392327954 NM_000138.5:c.7364G>A