ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828053697
Gene: HK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1383488
ClinVar RCV Id:
RCV001892635
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001345192.1:p.Arg445Cys
CA5532579
NM_001358263.1:c.1333C>T