ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA318466
Gene: SLC2A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006507.2:p.Ile386Val
CA318465
NM_006516.4:c.1156A>G