ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830120787
Gene: HK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424845
ClinVar RCV Id:
RCV000487470
RCV002287411
RCV001064496
RCV001075827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_277035.2:p.Glu835Lys
CA5532875
NM_033500.2:c.2503G>A