ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108027
Gene: PHKA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000283.1:p.Arg186Cys
CA121113
NM_000292.3:c.556C>T