ClinGen Allele Registry
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Canonical Allele Identifier:
CA414802316
Gene: MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
986472
ClinVar RCV Id:
RCV002291223
RCV002537703
MyVariant Identifiers:
chrMT:g.9155A>G (hg38)
ERepo:
CA414802316/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9155A>G , J01415.2:m.9155A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.629A>G
ENSP00000354632.2:p.Gln210Arg
Search 100 bp 5'
Search 100 bp 3'