Allele Registry

Canonical Allele Identifier: PA658800405

Gene: FBN1 HGNC NCBI

ClinVar Allele:

529016

ClinVar RCV:

RCV000631901

RCV000663682

ClinVar Variation:

527141

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys134Arg	CA392446523 NM_000138.5:c.400T>C