Allele Registry

Canonical Allele Identifier: CA913168968

Gene:

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000850688

RCV003153872

ClinVar Variation:

689856

dbSNP:

199474657

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3243A>T , J01415.2:m.3243A>T	GRCh38

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