ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828375330
Gene: SLC52A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1378738
ClinVar RCV Id:
RCV001881307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357015.1:p.Asp272His
CA9724675
NM_001370086.1:c.814G>C