Canonical Allele Identifier: PA1139725552
Gene: PNKP HGNC NCBI

Linked Data

ClinVar Variation Id: 947196
ClinVar RCV Id: RCV001218217
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009185.2:p.Gly494Cys
CA406932509
NM_007254.4:c.1480G>T