Allele Registry

Canonical Allele Identifier: CA120555

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.8363G>A

Linked Data - NCBI & NCI

ClinVar Allele:

24620

ClinVar RCV:

RCV000010197

RCV000144004

RCV000192053

RCV000850961

RCV003162232

ClinVar Variation:

9581

dbSNP:

118192100

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8363G>A , J01415.2:m.8363G>A	GRCh38

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