ClinGen Allele Registry
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Canonical Allele Identifier:
CA414807568
Gene: MT-ND4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
618728
ClinVar RCV Id:
RCV000757487
RCV000854693
dbSNP Id:
rs1569484408
MyVariant Identifiers:
chrMT:g.10931T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.10931T>C , J01415.2:m.10931T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361381.2:c.172T>C
ENSP00000354961.2:p.Ser58Pro
Search 100 bp 5'
Search 100 bp 3'