ClinGen Allele Registry
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Canonical Allele Identifier:
CA337097609
Gene: MT-CO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692741
ClinVar RCV Id:
RCV000854066
dbSNP Id:
rs9783095
MyVariant Identifiers:
chrMT:g.7389T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.7389T>C , J01415.2:m.7389T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361624.2:c.1486T>C
ENSP00000354499.2:p.Tyr496His
Search 100 bp 5'
Search 100 bp 3'