ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022284
Gene: AK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305051.1:p.Gly193Val
CA200286613
NM_001318122.2:c.578G>T