Allele Registry

Canonical Allele Identifier: PA658800413

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV002314324

RCV003767796

ClinVar Variation:

519727

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys150Arg	CA392446408 NM_000138.5:c.448T>C