ClinGen Allele Registry
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Canonical Allele Identifier:
CA214937
Gene:
Linked Data - Expert Curation
ClinGen Evidence Repository:
Classification
Pathogenic
Condition
mitochondrial disease
VCEP
Mitochondrial Diseases VCEP
Linked Data - NCBI & NCI
ClinVar Allele:
51396
ClinVar RCV:
RCV000010178
RCV000022905
RCV000035051
RCV000844678
RCV000850889
RCV001543566
RCV002247421
RCV003153328
ClinVar Variation:
42226
dbSNP:
111033319
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.7471dup , J01415.2:m.7471dup
GRCh38
Search 100 bp 5'
Search 100 bp 3'