ClinGen Allele Registry
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Canonical Allele Identifier:
CA337096951
Gene: MT-ND2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
441150
ClinVar RCV Id:
RCV000509491
RCV002221548
dbSNP Id:
rs3021086
MyVariant Identifiers:
chrMT:g.4769A>G (hg38)
ERepo:
CA337096951/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4769A>G , J01415.2:m.4769A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361453.3:c.300A>G
ENSP00000355046.4:p.Ile100Met
Search 100 bp 5'
Search 100 bp 3'