Allele Registry

Canonical Allele Identifier: PA131217

Gene: FBN1 HGNC NCBI

ClinVar Variation Id: 42402

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Tyr2149Cys	CA016465 NM_000138.5:c.6446A>G