ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA316565
Gene: PNPO
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206450
ClinVar RCV Id:
RCV000188498
RCV000850584
RCV004537581
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060599.1:p.Arg225Cys
CA316564
NM_018129.4:c.673C>T