ClinGen Allele Registry
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Canonical Allele Identifier:
CA120626
Gene: MT-ND6
HGNC
NCBI
Linked Data - Expert Curation
ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
mitochondrial disease
VCEP
Mitochondrial Diseases VCEP
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.14596A>T
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010329
RCV000055704
ClinVar Variation:
9690
dbSNP:
387906424
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14596A>T , J01415.2:m.14596A>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361681.2:c.78T>A
ENSP00000354665.2:p.Ile26=
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