ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741814166
Gene: PHKA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000283.1:p.His1096Arg
CA327026955
NM_000292.3:c.3287A>G