ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573275207
Gene: SLC29A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1426034
ClinVar RCV Id:
RCV001931182
RCV003167284
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060814.4:p.Ser285Leu
CA5543065
NM_018344.6:c.854C>T