Allele Registry

Canonical Allele Identifier: PA645406078

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000458027

RCV000663896

RCV001093331

RCV001192807

ClinVar Variation:

406283

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asp2247Gly	CA16614794 NM_000138.5:c.6740A>G