Allele Registry

Canonical Allele Identifier: PA2825057860

Gene: FBN1 HGNC NCBI

ClinVar Allele:

3087817

ClinVar RCV:

RCV003795377

ClinVar Variation:

2932163

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Pro970Arg	CA392329844 NM_000138.5:c.2909C>G