ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825885756
Gene: SLC17A8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138760.1:p.Ala490Val
CA6739068
NM_001145288.2:c.1469C>T