ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826979874
Gene: AK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305050.1:p.Arg128Trp
CA128011
NM_001318121.1:c.382C>T