Allele Registry

Canonical Allele Identifier: PA658691332

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000587101

RCV001853974

ClinVar Variation:

495589

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly1127Asp	CA392326583 NM_000138.5:c.3380G>A