ClinGen Allele Registry
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Canonical Allele Identifier:
CA254836
Gene:
Linked Data - Expert Curation
ClinGen Evidence Repository:
Classification
Pathogenic
Condition
mitochondrial disease
VCEP
Mitochondrial Diseases VCEP
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.8344A>G
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010192
RCV000010193
RCV000010194
RCV000224965
RCV000495310
RCV000850950
RCV001729345
RCV003492290
ClinVar Variation:
9579
dbSNP:
118192098
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8344A>G , J01415.2:m.8344A>G
GRCh38
Search 100 bp 5'
Search 100 bp 3'