Allele Registry

Canonical Allele Identifier: PA658670573

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000556628

RCV003105946

ClinVar Variation:

458757

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Glu1118Lys	CA360760082 NM_001999.4:c.3352G>A