Allele Registry

Canonical Allele Identifier: PA323823

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000199291

RCV000286121

RCV000766966

RCV002311053

ClinVar Variation:

213272

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Gly479Arg	CA323822 NM_001999.4:c.1435G>A CA360748976 NM_001999.4:c.1435G>C