Allele Registry

Canonical Allele Identifier: CA120576

Gene:

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.12147G>A

Linked Data - NCBI & NCI

ClinVar Allele:

24649

ClinVar RCV:

RCV000010234

RCV000851013

RCV002247294

ClinVar Variation:

9610

dbSNP:

121434474

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.12147G>A , J01415.2:m.12147G>A	GRCh38

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