Allele Registry

Canonical Allele Identifier: PA658812489

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000684895

RCV001355213

RCV001472308

ClinVar Variation:

510894

565354

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Gln31His	CA3396229 NM_001999.4:c.93G>T CA360762942 NM_001999.4:c.93G>C