Canonical Allele Identifier: PA2573251817
Gene: PNKP HGNC NCBI

Linked Data

ClinVar Variation Id: 1366174
ClinVar RCV Id: RCV001944548
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009185.2:p.Leu329Pro
CA406881031
NM_007254.4:c.986T>C