ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827033089
Gene: AK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18258
ClinVar RCV Id:
RCV000019920
RCV002281711
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001306069.1:p.Arg138Cys
CA128000
NM_001319140.1:c.412C>T