ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826193799
Gene: POGZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2504429
ClinVar RCV Id:
RCV003231890
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001181867.1:p.Leu54Phe
CA29590073
NM_001194938.2:c.160C>T