Allele Registry

Canonical Allele Identifier: PA658670605

Gene: FBN2 HGNC NCBI

ClinVar Allele:

454414

ClinVar RCV:

RCV000556027

RCV002314952

ClinVar Variation:

458763

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Cys1246Arg	CA360758140 NM_001999.4:c.3736T>C