Allele Registry

Canonical Allele Identifier: PA323463

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000468359

RCV001572836

RCV002277514

RCV002310777

RCV003479055

RCV003927825

ClinVar Variation:

213256

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Glu2753Lys	CA323462 NM_001999.4:c.8257G>A