ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA414795635
Gene: MT-CO2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692828
ClinVar RCV Id:
RCV000854156
dbSNP Id:
rs1603221344
MyVariant Identifiers:
chrMT:g.8238T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8238T>C , J01415.2:m.8238T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361739.1:c.653T>C
ENSP00000354876.1:p.Ile218Thr
Search 100 bp 5'
Search 100 bp 3'