ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830119876
Gene: HK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2640550
ClinVar RCV Id:
RCV003417464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_277033.1:p.Leu448del
CA2695199503
NM_033498.3:c.1342_1344del