Allele Registry

Canonical Allele Identifier: PA304200

Gene: FBN1 HGNC NCBI

ClinVar Allele:

197669

ClinVar RCV:

RCV000181552

RCV001230591

ClinVar Variation:

200069

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1934Tyr	CA016083 NM_000138.5:c.5801G>A