Allele Registry

Canonical Allele Identifier: PA2825056906

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV003783674

ClinVar Variation:

2925580

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys160Gly	CA392446345 NM_000138.5:c.478T>G