Allele Registry

Canonical Allele Identifier: PA645464989

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000444112

RCV003640899

ClinVar Variation:

393241

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Arg1989Cys	CA3394535 NM_001999.4:c.5965C>T