ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA915952144
Gene:
Linked Data - Expert Curation
ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
mitochondrial disease
VCEP
Mitochondrial Diseases VCEP
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000851056
RCV001250990
RCV003985435
ClinVar Variation:
690169
dbSNP:
1603223633
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12241del , J01415.2:m.12241del
GRCh38
Search 100 bp 5'
Search 100 bp 3'