Allele Registry

Canonical Allele Identifier: PA658670672

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000518903

RCV001306832

RCV002314909

ClinVar Variation:

449742

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Arg1575His	CA3394865 NM_001999.4:c.4724G>A