ClinGen Allele Registry
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Canonical Allele Identifier:
CA120610
Gene: MT-CO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9665
ClinVar RCV Id:
RCV000010303
dbSNP Id:
rs199476127
MyVariant Identifiers:
chrMT:g.6721T>C (hg38)
PubMed:
PMID:9389715
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.6721T>C , J01415.2:m.6721T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361624.2:c.818T>C
ENSP00000354499.2:p.Met273Thr
Search 100 bp 5'
Search 100 bp 3'