ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3088576190
Gene: SLC5A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000334.1:p.Ala411Pro
CA411308862
NM_000343.4:c.1231G>C