ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828910776
Gene: SLC17A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2138823
ClinVar RCV Id:
RCV003050698
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369564.1:p.Lys197Arg
CA364716748
NM_001382635.1:c.590A>G