ClinGen Allele Registry
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Canonical Allele Identifier:
PA110678
Gene: SOD1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000445.1:p.Ile105Phe
NM_000454.5:c.313A>T