Allele Registry

Canonical Allele Identifier: PA645464448

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000226112

RCV001753694

ClinVar Variation:

239084

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Gly135Glu	CA3396126 NM_001999.4:c.404G>A