ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826065369
Gene: PHKA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165907.1:p.Arg248His
CA10451002
NM_001172436.2:c.743G>A