Allele Registry

Canonical Allele Identifier: PA645465070

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000320784

RCV001591013

ClinVar Variation:

350765

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Asp2332Asn	CA10622577 NM_001999.4:c.6994G>A