Canonical Allele Identifier: PA2580345228
Gene: PNKP HGNC NCBI

Linked Data

ClinVar Variation Id: 2251032
ClinVar RCV Id: RCV002771788
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009185.2:p.Trp331Arg
CA406880960
NM_007254.4:c.991T>C
CA406880980
NM_007254.4:c.991T>A