ClinGen Allele Registry
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Canonical Allele Identifier:
CA414775286
Gene: MT-ND2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692478
ClinVar RCV Id:
RCV000853794
dbSNP Id:
rs1603219554
MyVariant Identifiers:
chrMT:g.4680C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4680C>A , J01415.2:m.4680C>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361453.3:c.211C>A
ENSP00000355046.4:p.Leu71Ile
Search 100 bp 5'
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