ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123305
Gene: PHKG2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000285.1:p.Leu226Arg
NM_000294.3:c.677T>G