ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA913181177
Gene: MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693090
ClinVar RCV Id:
RCV000854437
dbSNP Id:
rs1603222065
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9099C>A , J01415.2:m.9099C>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.573C>A
ENSP00000354632.2:p.Ile191=
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