ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827159367
Gene: HK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421007
ClinVar RCV Id:
RCV000483739
RCV000850128
RCV001266687
RCV001770372
RCV001270352
RCV003126749
RCV001254702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309295.1:p.Ser417Leu
CA16618972
NM_001322366.1:c.1250C>T