ClinGen Allele Registry
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Canonical Allele Identifier:
CA10581433
Gene: MT-ND2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235811
ClinVar RCV Id:
RCV000224519
RCV000853891
dbSNP Id:
rs878853115
MyVariant Identifiers:
chrMT:g.5302T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.5302T>C , J01415.2:m.5302T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361453.3:c.833T>C
ENSP00000355046.4:p.Ile278Thr
Search 100 bp 5'
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