ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499232538
Gene: SOD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001298872
ClinVar Variation:
1002443
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000445.1:p.Ile152Ser
CA410037840
NM_000454.5:c.455T>G