Allele Registry

Canonical Allele Identifier: PA101807

Gene: FBN2 HGNC NCBI

ClinVar Allele:

171281

ClinVar RCV:

RCV000148948

RCV000468154

RCV000680529

RCV002311021

RCV003313043

ClinVar Variation:

161445

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Glu1144Lys	CA174026 NM_001999.4:c.3430G>A