Allele Registry

Canonical Allele Identifier: PA126537

Gene: FBN1 HGNC NCBI

ClinVar Allele:

31501

ClinVar RCV:

RCV000017926

RCV000532010

ClinVar Variation:

16462

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1032Tyr	CA013783 NM_000138.5:c.3095G>A