Allele Registry

Canonical Allele Identifier: PA645464742

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000416376

RCV001861464

ClinVar Variation:

375300

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Cys982Phe	CA16044044 NM_001999.4:c.2945G>T