ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3088325399
Gene: SOD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000445.1:p.Phe46Ser
CA410036721
NM_000454.5:c.137T>C