Allele Registry

Canonical Allele Identifier: CA120565

Gene:

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.3251A>G

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010218

RCV000850691

ClinVar Variation:

9595

dbSNP:

199474662

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3251A>G , J01415.2:m.3251A>G	GRCh38

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