ClinGen Allele Registry
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Canonical Allele Identifier:
CA337098094
Gene: MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693009
ClinVar RCV Id:
RCV000854349
dbSNP Id:
rs41432347
MyVariant Identifiers:
chrMT:g.8869A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8869A>G , J01415.2:m.8869A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.343A>G
ENSP00000354632.2:p.Ile115Val
Search 100 bp 5'
Search 100 bp 3'