ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580420775
Gene: PNPO
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2008584
ClinVar RCV Id:
RCV002828726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060599.1:p.Gln220Arg
CA400062365
NM_018129.4:c.659A>G