ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826381539
Gene: SLC5A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243243.1:p.Ile340Thr
CA10198222
NM_001256314.2:c.1019T>C