ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108050
Gene: PHKA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208676
ClinVar RCV Id:
RCV000190690
RCV000694745
RCV003328098
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000283.1:p.Arg295His
CA204657
NM_000292.3:c.884G>A