ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828374917
Gene: SLC52A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1514557
ClinVar RCV Id:
RCV002029381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357014.1:p.Ala188Thr
CA9724753
NM_001370085.1:c.562G>A