ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA257366
Gene: SOD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000015905
ClinVar Variation:
14782
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000445.1:p.His81Arg
CA257364
NM_000454.5:c.242A>G