ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829335847
Gene: AK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001616.1:p.Arg175Gly
CA339699543
NM_001625.4:c.523C>G