ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA316477
Gene: PNKP
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009185.2:p.Trp331Ter
NM_007254.4:c.992G>A
NM_007254.4:c.993G>A