ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA318500
Gene: SLC2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207232
ClinVar RCV Id:
RCV000189400
RCV000648077
RCV003445686
RCV003445688
RCV003445684
RCV003445685
RCV003445687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006507.2:p.Leu482Pro
CA318499
NM_006516.4:c.1445T>C