Allele Registry

Canonical Allele Identifier: CA254845

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.5591G>A

Linked Data - NCBI & NCI

ClinVar Allele:

24664

ClinVar RCV:

RCV000010251

RCV000850806

RCV002247299

ClinVar Variation:

9625

dbSNP:

121434458

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.5591G>A , J01415.2:m.5591G>A	GRCh38

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