ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA316562
Gene: PNPO
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000692339
RCV001705034
RCV002345675
ClinVar Variation:
206448
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060599.1:p.Arg181Gln
CA316561
NM_018129.4:c.542G>A