Allele Registry

Canonical Allele Identifier: PA354861

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000208111

RCV000799739

RCV000989326

RCV001184036

ClinVar Variation:

222603

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asp1191Asn	CA051096 NM_000138.5:c.3571G>A