ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645454483
Gene: POGZ
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_055915.2:p.Pro717Leu
NM_015100.4:c.2150C>T