Allele Registry

Canonical Allele Identifier: PA645510457

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000507361

RCV000806890

RCV002245992

ClinVar Variation:

439708

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2221Arg	CA269523649 NM_000138.5:c.6661T>C