ClinGen Allele Registry
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Canonical Allele Identifier:
CA913180805
Gene: MT-CO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
805023
ClinVar RCV Id:
RCV000992334
dbSNP Id:
rs1556423045
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.5918T>C , J01415.2:m.5918T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361624.2:c.15T>C
ENSP00000354499.2:p.Arg5=
Search 100 bp 5'
Search 100 bp 3'