ClinGen Allele Registry
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Canonical Allele Identifier:
CA16603245
Gene: MT-CO2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
377045
ClinVar RCV Id:
RCV000432394
dbSNP Id:
rs1057520115
MyVariant Identifiers:
chrMT:g.8260T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8260T>C , J01415.2:m.8260T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361739.1:c.675T>C
ENSP00000354876.1:p.Phe225=
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