Allele Registry

Canonical Allele Identifier: PA346343

Gene: FBN1 HGNC NCBI

ClinVar Allele:

178694

ClinVar RCV:

RCV000157228

RCV000705056

ClinVar Variation:

180354

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1485Arg	CA015083 NM_000138.5:c.4453T>C