Allele Registry

Canonical Allele Identifier: CA913169025

Gene:

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - NCBI & NCI

ClinVar RCV:

RCV002291221

ClinVar Variation:

986454

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3258T>C , J01415.2:m.3258T>C	GRCh38

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