Allele Registry

Canonical Allele Identifier: PA645406429

Gene: FBN1 HGNC NCBI

ClinVar Allele:

373456

ClinVar RCV:

RCV000444024

RCV000490638

RCV002522727

ClinVar Variation:

393275

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly2636Ser	CA16606687 NM_000138.5:c.7906G>A