ClinGen Allele Registry
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Canonical Allele Identifier:
CA337097825
Gene: MT-CO2
HGNC
NCBI
Linked Data
dbSNP Id:
rs201246560
MyVariant Identifiers:
chrMT:g.8255G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8255G>C , J01415.2:m.8255G>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361739.1:c.670G>C
ENSP00000354876.1:p.Val224Leu
Search 100 bp 5'
Search 100 bp 3'