Allele Registry

Canonical Allele Identifier: PA248595

Gene: FBLN5 HGNC NCBI

ClinVar RCV:

RCV000756132

RCV001843302

RCV003447124

ClinVar Variation:

218358

HGVS (amino-acid)	Matching Registered Transcripts
NP_006320.2:p.Arg373Cys	CA248593 NM_006329.4:c.1117C>T