Allele Registry

Canonical Allele Identifier: PA112510

Gene: PNKP HGNC NCBI

ClinVar RCV:

RCV000005119

RCV000188441

RCV001813953

RCV002512794

ClinVar Variation:

4846

HGVS (amino-acid)	Matching Registered Transcripts
NP_009185.2:p.Glu326Lys	CA250516 NM_007254.4:c.976G>A