ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828375263
Gene: SLC52A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1481559
ClinVar RCV Id:
RCV002000576
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357015.1:p.Thr182Met
CA9724756
NM_001370086.1:c.545C>T