ClinGen Allele Registry
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Canonical Allele Identifier:
CA414792950
Gene: MT-CO2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692749
ClinVar RCV Id:
RCV000854075
dbSNP Id:
rs1603221034
MyVariant Identifiers:
chrMT:g.7604G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.7604G>A , J01415.2:m.7604G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361739.1:c.19G>A
ENSP00000354876.1:p.Val7Ile
Search 100 bp 5'
Search 100 bp 3'