Allele Registry

Canonical Allele Identifier: PA658812769

Gene: FBN2 HGNC NCBI

ClinVar Allele:

509721

ClinVar RCV:

RCV001345957

RCV001770551

RCV002313289

ClinVar Variation:

519808

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Arg1307Cys	CA127008422 NM_001999.4:c.3919C>T