ClinGen Allele Registry
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Canonical Allele Identifier:
CA16040652
Gene: MT-CO3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
370052
ClinVar RCV Id:
RCV000408945
RCV002248640
dbSNP Id:
rs1057516064
MyVariant Identifiers:
chrMT:g.9237G>A (hg38)
PubMed:
PMID:28027978
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9237G>A , J01415.2:m.9237G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000362079.2:c.31G>A
ENSP00000354982.2:p.Val11Ile
Search 100 bp 5'
Search 100 bp 3'