ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139668705
Gene: SOD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
939068
ClinVar RCV:
RCV001203287
ClinVar Variation:
934816
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000445.1:p.Leu107Phe
CA410037532
NM_000454.5:c.319C>T