Allele Registry

Canonical Allele Identifier: PA199623

Gene: PNKP HGNC NCBI

ClinVar RCV:

RCV000170438

RCV000500375

RCV001093540

RCV001226527

RCV001268911

ClinVar Variation:

190219

HGVS (amino-acid)	Matching Registered Transcripts
NP_009185.2:p.Thr408del	CA199622 NM_007254.4:c.1221_1223del