ClinGen Allele Registry
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Canonical Allele Identifier:
CA254858
Gene: MT-ND2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9716
ClinVar RCV Id:
RCV000010364
RCV000853834
dbSNP Id:
rs28357980
MyVariant Identifiers:
chrMT:g.4917A>G (hg38)
PubMed:
PMID:1900003
PMID:18461138
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4917A>G , J01415.2:m.4917A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361453.3:c.448A>G
ENSP00000355046.4:p.Asn150Asp
Search 100 bp 5'
Search 100 bp 3'