ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA343791
Gene: SLC52A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
48175
ClinVar RCV:
RCV000032776
ClinVar Variation:
39576
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001240744.1:p.Leu123Pro
CA343790
NM_001253815.2:c.368T>C