ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826236659
Gene: AK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186128.1:p.Arg167Pro
CA339699537
NM_001199199.3:c.500G>C