ClinGen Allele Registry
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Canonical Allele Identifier:
CA414798113
Gene: MT-ATP6
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.8794C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8794C>G , J01415.2:m.8794C>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.268C>G
ENSP00000354632.2:p.His90Asp
Search 100 bp 5'
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