ClinGen Allele Registry
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Canonical Allele Identifier:
CA120607
Gene: MT-CO2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9662
ClinVar RCV Id:
RCV000010298
dbSNP Id:
rs199474829
MyVariant Identifiers:
chrMT:g.7896G>A (hg38)
PubMed:
PMID:11558799
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.7896G>A , J01415.2:m.7896G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361739.1:c.311G>A
ENSP00000354876.1:p.Trp104Ter
Search 100 bp 5'
Search 100 bp 3'