ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499232536
Gene: SOD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000445.1:p.Thr138Ile
CA410037753
NM_000454.5:c.413C>T