ClinGen Allele Registry
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Canonical Allele Identifier:
CA414774883
Gene: MT-ND2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
618727
ClinVar RCV Id:
RCV000757486
dbSNP Id:
rs1569483945
MyVariant Identifiers:
chrMT:g.4597T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4597T>C , J01415.2:m.4597T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361453.3:c.128T>C
ENSP00000355046.4:p.Val43Ala
Search 100 bp 5'
Search 100 bp 3'