Allele Registry

Canonical Allele Identifier: PA658801004

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000631973

ClinVar Variation:

527186

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Leu2778Arg	CA392319559 NM_000138.5:c.8333T>G