Allele Registry

Canonical Allele Identifier: PA2499228823

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV001509487

RCV002246022

RCV002246058

ClinVar Variation:

1163968

1325446

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2232Ser	CA392333387 NM_000138.5:c.6695G>C CA392333394 NM_000138.5:c.6694T>A