ClinGen Allele Registry
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Canonical Allele Identifier:
CA120612
Gene: MT-CO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9668
ClinVar RCV Id:
RCV000010306
RCV003985257
dbSNP Id:
rs28679680
MyVariant Identifiers:
chrMT:g.6930G>A (hg38)
PubMed:
PMID:10441567
ERepo:
CA120612/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.6930G>A , J01415.2:m.6930G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361624.2:c.1027G>A
ENSP00000354499.2:p.Gly343Arg
Search 100 bp 5'
Search 100 bp 3'