ClinGen Allele Registry
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Canonical Allele Identifier:
CA414797273
Gene: MT-ATP6
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.8665C>G (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8665C>G , J01415.2:m.8665C>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.139C>G
ENSP00000354632.2:p.Gln47Glu
Search 100 bp 5'
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