ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827169130
Gene: SOD2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309744.1:p.Val16Ala
CA124294
NM_001322815.2:c.47T>C