Allele Registry

Canonical Allele Identifier: PA281658

Gene: FBN1 HGNC NCBI

ClinVar Allele:

31466

ClinVar RCV:

RCV000017889

ClinVar Variation:

16427

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2221Ser	CA016633 NM_000138.5:c.6662G>C CA392333559 NM_000138.5:c.6661T>A