Allele Registry

Canonical Allele Identifier: PA645464581

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000322354

RCV002311200

RCV002487162

ClinVar Variation:

264520

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Gly475Ser	CA3395804 NM_001999.4:c.1423G>A