Allele Registry

Canonical Allele Identifier: PA658670597

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000522133

RCV000768220

RCV002527580

ClinVar Variation:

449577

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Arg1195His	CA3395197 NM_001999.4:c.3584G>A