ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573317292
Gene: POGZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1691144
ClinVar RCV Id:
RCV002254060
RCV004555898
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997054.1:p.Glu987Lys
CA341945520
NM_207171.2:c.2959G>A