Allele Registry

Canonical Allele Identifier: PA658661425

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000545570

RCV002245997

ClinVar Variation:

457267

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Ile2681Arg	CA392322503 NM_000138.5:c.8042T>G