ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022283
Gene: AK1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001305051.1:p.Tyr180Cys
NM_001318122.2:c.539A>G