ClinGen Allele Registry
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Canonical Allele Identifier:
CA120601
Gene: MT-CO3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9655
ClinVar RCV Id:
RCV000010291
dbSNP Id:
rs267606613
MyVariant Identifiers:
chrMT:g.9952G>A (hg38)
PubMed:
PMID:9634511
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9952G>A , J01415.2:m.9952G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000362079.2:c.746G>A
ENSP00000354982.2:p.Ter249=
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