Allele Registry

Canonical Allele Identifier: PA353644

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000208180

RCV002363040

ClinVar Variation:

222609

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2232Arg	CA353642 NM_000138.5:c.6694T>C