Allele Registry

Canonical Allele Identifier: PA658691267

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000820499

RCV001374765

RCV002246000

RCV003317292

ClinVar Variation:

495585

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly1049Asp	CA392328099 NM_000138.5:c.3146G>A