ClinGen Allele Registry
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Canonical Allele Identifier:
CA414790915
Gene: MT-CO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692695
ClinVar RCV Id:
RCV000854020
dbSNP Id:
rs1603220753
MyVariant Identifiers:
chrMT:g.7053G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.7053G>A , J01415.2:m.7053G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361624.2:c.1150G>A
ENSP00000354499.2:p.Gly384Arg
Search 100 bp 5'
Search 100 bp 3'