Allele Registry

Canonical Allele Identifier: PA112520

Gene: PNKP HGNC NCBI

ClinVar RCV:

RCV000005121

ClinVar Variation:

4848

HGVS (amino-acid)	Matching Registered Transcripts
NP_009185.2:p.Leu176Phe	CA250517 NM_007254.4:c.526C>T