ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499256848
Gene: SLC17A5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369560.1:p.Trp247Leu
CA364716334
NM_001382631.1:c.740G>T