Allele Registry

Canonical Allele Identifier: PA2499272928

Gene: PDE6C HGNC NCBI

ClinVar RCV:

RCV001591821

RCV001882710

ClinVar Variation:

1213879

HGVS (amino-acid)	Matching Registered Transcripts
NP_006195.3:p.Glu752Lys	CA377627472 NM_006204.4:c.2254G>A