Allele Registry

Canonical Allele Identifier: CA120571

Gene:

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Uncertain Significance

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

COSMIC:

COSN1085323

COSN1085324

COSN1085325

COSN1085326

COSN1085327

COSN1085328

COSN1085329

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.4284G>A

Linked Data - NCBI & NCI

ClinVar Allele:

24643

ClinVar RCV:

RCV000010227

RCV000850716

RCV001838978

RCV002247292

RCV003985254

ClinVar Variation:

9604

dbSNP:

121434468

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.4284G>A , J01415.2:m.4284G>A	GRCh38

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