ClinGen Allele Registry
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Canonical Allele Identifier:
CA414807752
Gene: MT-ND4
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.10972A>C (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.10972A>C , J01415.2:m.10972A>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361381.2:c.213A>C
ENSP00000354961.2:p.Ter71Cys
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