ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA251145
Gene: PNKP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
159789
ClinVar RCV Id:
RCV000147347
RCV000458378
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009185.2:p.Ala440Gly
CA251144
NM_007254.4:c.1319C>G