ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA343791
Gene: SLC52A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001240744.1:p.Leu123Pro
NM_001253815.2:c.368T>C