Allele Registry

Canonical Allele Identifier: PA238730

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000197074

RCV000389183

RCV000724116

RCV002310741

ClinVar Variation:

193220

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Pro37Gln	CA238729 NM_001999.4:c.110C>A