ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828087943
Gene: SLC29A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1950391
ClinVar RCV Id:
RCV002694768
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350447.1:p.Glu197Lys
CA209387715
NM_001363518.2:c.589G>A