ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573166081
Gene: SLC5A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000334.1:p.Arg336Cys
CA10198114
NM_000343.4:c.1006C>T