Allele Registry

Canonical Allele Identifier: CA345912

Gene:

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Uncertain Significance

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.5523T>G

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000144001

ClinVar Variation:

155882

dbSNP:

587776435

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.5523T>G , J01415.2:m.5523T>G	GRCh38

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