Allele Registry

Canonical Allele Identifier: PA645405424

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000466201

RCV001000163

RCV001185791

RCV002481399

RCV003235219

RCV004000736

ClinVar Variation:

406339

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Val1667Ile	CA054126 NM_000138.5:c.4999G>A