ClinGen Allele Registry
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Canonical Allele Identifier:
CA414797302
Gene: MT-ATP6
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.8669G>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8669G= , J01415.2:m.8669G=
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.143G=
ENSP00000354632.2:p.Ter48=
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