ClinGen Allele Registry
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Canonical Allele Identifier:
CA414793083
Gene: MT-CO2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
439912
ClinVar RCV Id:
RCV000506977
RCV000854079
RCV003319204
dbSNP Id:
rs1556423314
MyVariant Identifiers:
chrMT:g.7637G>A (hg38)
ERepo:
CA414793083/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.7637G>A , J01415.2:m.7637G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361739.1:c.52G>A
ENSP00000354876.1:p.Glu18Lys
Search 100 bp 5'
Search 100 bp 3'