ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741814173
Gene: PHKA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3061037
ClinVar RCV Id:
RCV003982549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000283.1:p.Glu1189Lys
CA10361260
NM_000292.3:c.3565G>A