Allele Registry

Canonical Allele Identifier: PA658800829

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV002532843

RCV004025276

ClinVar Variation:

521729

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2000Tyr	CA392339674 NM_000138.5:c.5999G>A