ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645423717
Gene: PHKA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000283.1:p.Ile693Val
CA10361736
NM_000292.3:c.2077A>G