ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110748
Gene: SOD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003064624
ClinVar Variation:
2138379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000445.1:p.Leu127Ser
CA410037674
NM_000454.5:c.380T>C