Allele Registry

Canonical Allele Identifier: CA254842

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.4300A>G

Linked Data - NCBI & NCI

ClinVar Allele:

24645

ClinVar RCV:

RCV000010229

RCV001251031

RCV002247293

RCV002291210

ClinVar Variation:

9606

dbSNP:

121434470

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.4300A>G , J01415.2:m.4300A>G	GRCh38

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