ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139712388
Gene: KHK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
335496
ClinVar RCV Id:
RCV000360209
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006479.1:p.Glu228del
CA1569410
NM_006488.3:c.683_685del