ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580115562
Gene: SOD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000445.1:p.Arg116His
CA410037591
NM_000454.5:c.347G>A