ClinGen Allele Registry
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Canonical Allele Identifier:
CA913169952
Gene:
Linked Data - Expert Curation
ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
mitochondrial disease
VCEP
Mitochondrial Diseases VCEP
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000851068
RCV003153875
ClinVar Variation:
690181
dbSNP:
1603223645
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12276G>A , J01415.2:m.12276G>A
GRCh38
Search 100 bp 5'
Search 100 bp 3'