Allele Registry

Canonical Allele Identifier: CA120587

Gene:

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.5650G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010250

RCV002247298

ClinVar Variation:

9624

dbSNP:

121434457

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.5650G>A , J01415.2:m.5650G>A	GRCh38

Search 100 bp 5'

Search 100 bp 3'