Allele Registry

Canonical Allele Identifier: PA645464692

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000475373

RCV002451132

RCV003942496

ClinVar Variation:

411824

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Arg792His	CA3395568 NM_001999.4:c.2375G>A