ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645429408
Gene: KHK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000212.1:p.Gly186Glu
NM_000221.3:c.557G>A