Allele Registry

Canonical Allele Identifier: CA254843

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.9997T>C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010235

RCV002247295

ClinVar Variation:

9611

dbSNP:

121434475

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.9997T>C , J01415.2:m.9997T>C	GRCh38

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