Allele Registry

Canonical Allele Identifier: PA198505

Gene: PNKP HGNC NCBI

ClinVar RCV:

RCV000167523

RCV000623823

RCV000648410

RCV001268912

RCV001813762

ClinVar Variation:

187766

HGVS (amino-acid)	Matching Registered Transcripts
NP_009185.2:p.Gly375Trp	CA198504 NM_007254.4:c.1123G>T