ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828910976
Gene: SLC17A5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369565.1:p.Trp134Leu
CA364716334
NM_001382636.1:c.401G>T