Allele Registry

Canonical Allele Identifier: PA658812916

Gene: FBN2 HGNC NCBI

ClinVar Allele:

520912

ClinVar RCV:

RCV001451612

RCV004025428

ClinVar Variation:

528408

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Gly2552Glu	CA360753269 NM_001999.4:c.7655G>A