ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA236267
Gene: SLC17A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191213
ClinVar RCV Id:
RCV000171400
RCV000764656
RCV001082286
RCV002284193
RCV001162237
RCV002515239
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036566.1:p.Ser300Phe
CA236266
NM_012434.5:c.899C>T