ClinGen Allele Registry
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Canonical Allele Identifier:
CA414792198
Gene: MT-CO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692727
ClinVar RCV Id:
RCV000854052
dbSNP Id:
rs1603220861
MyVariant Identifiers:
chrMT:g.7279T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.7279T>C , J01415.2:m.7279T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361624.2:c.1376T>C
ENSP00000354499.2:p.Phe459Ser
Search 100 bp 5'
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