ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139689713
Gene: PHKG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
946120
ClinVar RCV Id:
RCV001216913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165903.1:p.Gly181Ser
CA395657158
NM_001172432.2:c.541G>A