Allele Registry

Canonical Allele Identifier: PA2828938197

Gene: FBLN5 HGNC NCBI

ClinVar RCV:

RCV000005812

RCV001851679

RCV003447070

ClinVar Variation:

5478

HGVS (amino-acid)	Matching Registered Transcripts
NP_001371089.1:p.Arg71Gln	CA213138 NM_001384160.1:c.212G>A