ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645382949
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_000179.2:p.Glu847Lys
CA5532875
NM_000188.3:c.2539G>A