ClinGen Allele Registry
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Canonical Allele Identifier:
CA658653721
Gene: MT-CO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446007
ClinVar RCV Id:
RCV000514880
dbSNP Id:
rs1556423104
MyVariant Identifiers:
chrMT:g.6278T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.6278T>C , J01415.2:m.6278T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361624.2:c.375T>C
ENSP00000354499.2:p.Gly125=
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