ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828077136
Gene: SLC52A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
473208
ClinVar RCV Id:
RCV000536224
RCV002413617
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350050.1:p.Arg275His
CA4938287
NM_001363121.2:c.824G>A