ClinGen Allele Registry
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Canonical Allele Identifier:
CA414794444
Gene: MT-CO2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
440835
ClinVar RCV Id:
RCV000509036
dbSNP Id:
rs1556423369
MyVariant Identifiers:
chrMT:g.7965T>C (hg38)
PubMed:
PMID:28802248
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.7965T>C , J01415.2:m.7965T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361739.1:c.380T>C
ENSP00000354876.1:p.Phe127Ser
Search 100 bp 5'
Search 100 bp 3'