ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA316453
Gene: PNKP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206386
ClinVar RCV Id:
RCV000188428
RCV000576288
RCV002327014
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009185.2:p.Arg141Gln
CA316452
NM_007254.4:c.422G>A