Canonical Allele Identifier: PA234707
Gene: PNKP HGNC NCBI

Linked Data

ClinVar Variation Id: 159794
ClinVar RCV Id: RCV000147358 RCV000433486 RCV000515248 RCV001815201 RCV001086537 RCV002312656 RCV003224167 RCV004532660
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009185.2:p.Arg139His
CA234706
NM_007254.4:c.416G>A