ClinGen Allele Registry
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Canonical Allele Identifier:
CA337097112
Gene: MT-ND2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692583
ClinVar RCV Id:
RCV000853901
dbSNP Id:
rs200778062
MyVariant Identifiers:
chrMT:g.5331C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.5331C>A , J01415.2:m.5331C>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361453.3:c.862C>A
ENSP00000355046.4:p.Leu288Ile
Search 100 bp 5'
Search 100 bp 3'