ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828375227
Gene: SLC52A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
476610
ClinVar RCV Id:
RCV000557473
RCV000825236
RCV001540821
RCV002377169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357015.1:p.Arg132Gln
CA9724788
NM_001370086.1:c.395G>A