Allele Registry

Canonical Allele Identifier: CA414780655

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.5558A>G

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000850795

RCV001796795

ClinVar Variation:

689941

dbSNP:

370471013

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.5558A>G , J01415.2:m.5558A>G	GRCh38

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