ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580513613
Gene: SLC5A8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004132931
ClinVar Variation:
2286085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_666018.3:p.Thr178Ile
CA386264104
NM_145913.5:c.533C>T