ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830115047
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_277032.1:p.Ser449Leu
CA16618972
NM_033497.3:c.1346C>T