ClinGen Allele Registry
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Canonical Allele Identifier:
CA414807250
Gene: MT-ND4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693321
ClinVar RCV Id:
RCV000854682
dbSNP Id:
rs1603222992
MyVariant Identifiers:
chrMT:g.10863G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.10863G>A , J01415.2:m.10863G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361381.2:c.104G>A
ENSP00000354961.2:p.Ser35Asn
Search 100 bp 5'
Search 100 bp 3'