Allele Registry

Canonical Allele Identifier: PA2573251913

Gene: PNKP HGNC NCBI

ClinVar Allele:

1358050

ClinVar RCV:

RCV001928487

ClinVar Variation:

1414027

HGVS (amino-acid)	Matching Registered Transcripts
NP_009185.2:p.Arg439Gly	CA406933248 NM_007254.4:c.1315C>G