Allele Registry

Canonical Allele Identifier: PA645406379

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000540250

RCV000659583

RCV000763353

RCV001374807

RCV002311119

RCV003441830

ClinVar Variation:

264272

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Glu2610Lys	CA10587789 NM_000138.5:c.7828G>A