ClinGen Allele Registry
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Canonical Allele Identifier:
CA414792161
Gene: MT-CO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692723
ClinVar RCV Id:
RCV000854048
dbSNP Id:
rs386829004
MyVariant Identifiers:
chrMT:g.7269G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.7269G>A , J01415.2:m.7269G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361624.2:c.1366G>A
ENSP00000354499.2:p.Val456Ile
Search 100 bp 5'
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