Allele Registry

Canonical Allele Identifier: PA304104

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181484

RCV000690524

RCV000781357

RCV001179626

RCV002277441

RCV002500529

RCV003996682

ClinVar Variation:

200016

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.His1130Arg	CA014034 NM_000138.5:c.3389A>G