ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA316569
Gene: PNPO
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206452
ClinVar RCV Id:
RCV000208780
RCV000188500
RCV004539748
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060599.1:p.Arg229Gln
CA316568
NM_018129.4:c.686G>A