ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA251168
Gene: PNKP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009185.2:p.Thr323Met
CA251167
NM_007254.4:c.968C>T