ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580490078
Gene: SLC52A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1952711
ClinVar RCV Id:
RCV002671926
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_212134.3:p.Asp254Val
CA9724690
NM_033409.4:c.761A>T