ClinGen Allele Registry
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Canonical Allele Identifier:
CA414796455
Gene: MT-ATP8
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.8516T>T (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8516T= , J01415.2:m.8516T=
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.151T=
ENSP00000355265.1:p.Ter51=
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