ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645374062
Gene: SLC2A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000442546
ClinVar Variation:
383454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006507.2:p.Pro383Leu
CA16603688
NM_006516.4:c.1148C>T