Allele Registry

Canonical Allele Identifier: PA658800887

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000631924

RCV000678261

ClinVar Variation:

527154

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2204Arg	CA392334606 NM_000138.5:c.6610T>C