Allele Registry

Canonical Allele Identifier: PA645405591

Gene: FBN1 HGNC NCBI

ClinVar Allele:

258859

ClinVar RCV:

RCV000253774

RCV000663780

RCV000781361

RCV003765551

ClinVar Variation:

263568

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1791Tyr	CA10587814 NM_000138.5:c.5372G>A