ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645495442
Gene: PNKP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426407
ClinVar RCV Id:
RCV000489945
RCV000648426
RCV002318595
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009185.2:p.Met466Thr
CA9586389
NM_007254.4:c.1397T>C