Allele Registry

Canonical Allele Identifier: PA304224

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181566

RCV000820661

ClinVar Variation:

200083

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly2140Arg	CA016435 NM_000138.5:c.6418G>A CA392336628 NM_000138.5:c.6418G>C