Allele Registry

Canonical Allele Identifier: PA282253

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000035230

RCV001852712

ClinVar Variation:

42388

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly1863Glu	CA015911 NM_000138.5:c.5588G>A