ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3082920461
Gene: SLC5A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003032.1:p.Arg479Cys
CA395755363
NM_003041.4:c.1435C>T