Allele Registry

Canonical Allele Identifier: CA254838

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.12320A>G

Linked Data - NCBI & NCI

ClinVar Allele:

24626

ClinVar RCV:

RCV000010204

ClinVar Variation:

9587

dbSNP:

121434463

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.12320A>G , J01415.2:m.12320A>G	GRCh38

Search 100 bp 5'

Search 100 bp 3'