ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096996
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_055915.2:p.Glu1040Lys
CA341945520
NM_015100.4:c.3118G>A