Allele Registry

Canonical Allele Identifier: CA254839

Gene:

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.3271T>C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010212

RCV000507161

RCV000763624

RCV003319163

ClinVar Variation:

9590

dbSNP:

199474658

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3271T>C , J01415.2:m.3271T>C	GRCh38

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