Allele Registry

Canonical Allele Identifier: PA658800984

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000632014

RCV001535542

RCV002314297

ClinVar Variation:

519693

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2672Gly	CA392322650 NM_000138.5:c.8014T>G