Allele Registry

Canonical Allele Identifier: PA645464418

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000489370

RCV002527031

ClinVar Variation:

426767

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Gly17Ser	CA360763286 NM_001999.4:c.49G>A