Canonical Allele Identifier: PA198505
Gene: PNKP HGNC NCBI

Linked Data

ClinVar Variation Id: 187766
ClinVar RCV Id: RCV000167523 RCV000648410 RCV000623823 RCV001268912 RCV001813762
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Amino-acid Alleles

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