Allele Registry

Canonical Allele Identifier: PA645464475

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000434872

RCV002313106

RCV003766340

ClinVar Variation:

387605

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.His163Arg	CA16604692 NM_001999.4:c.488A>G