ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580401193
Gene: SLC29A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2162834
ClinVar RCV Id:
RCV003070445
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060814.4:p.Thr343Ile
CA377115713
NM_018344.6:c.1028C>T