Allele Registry

Canonical Allele Identifier: PA282209

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000035190

RCV000684806

RCV001582508

RCV002326721

RCV003483448

ClinVar Variation:

42351

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1408Arg	CA014867 NM_000138.5:c.4222T>C