ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658817088
Gene: PHKA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002628.2:p.Arg553His
CA10450839
NM_002637.4:c.1658G>A