ClinGen Allele Registry
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Canonical Allele Identifier:
CA414775553
Gene: MT-ND2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1328512
ClinVar RCV Id:
RCV001796953
dbSNP Id:
rs1603219589
MyVariant Identifiers:
chrMT:g.4735C>G (hg38)
ERepo:
CA414775553/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4735C>G , J01415.2:m.4735C>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361453.3:c.266C>G
ENSP00000355046.4:p.Thr89Ser
Search 100 bp 5'
Search 100 bp 3'