ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110711
Gene: SOD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197145
ClinVar RCV Id:
RCV000178103
RCV000255754
RCV000492500
RCV003398894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000445.1:p.Ile114Thr
CA275244
NM_000454.5:c.341T>C