ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828375010
Gene: SLC52A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
847825
ClinVar RCV Id:
RCV001051448
RCV001552328
RCV002445268
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357014.1:p.Gly316Ser
CA9724643
NM_001370085.1:c.946G>A