ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830528301
Gene: POGZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521502
ClinVar RCV Id:
RCV000623084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997054.1:p.Thr1315Lys
CA658795512
NM_207171.2:c.3944_3945delinsAG