ClinGen Allele Registry
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Canonical Allele Identifier:
CA913178815
Gene: MT-CO2
HGNC
NCBI
Linked Data
dbSNP Id:
rs2068707844
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8254C>T , J01415.2:m.8254C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361739.1:c.669C>T
ENSP00000354876.1:p.Pro223=
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