Allele Registry

Canonical Allele Identifier: PA658800915

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000631977

ClinVar Variation:

527188

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2378Trp	CA392329546 NM_000138.5:c.7134C>G