Allele Registry

Canonical Allele Identifier: PA323358

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000198829

RCV000463573

RCV002315585

RCV003987442

ClinVar Variation:

213337

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Lys1759Gln	CA323357 NM_001999.4:c.5275A>C