ClinGen Allele Registry
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Canonical Allele Identifier:
CA250589
Gene: MT-ND4L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9706
ClinVar RCV Id:
RCV000010352
dbSNP Id:
rs267606892
MyVariant Identifiers:
chrMT:g.10563T>C (hg38)
PubMed:
PMID:9806551
PMID:13298683
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.10563T>C , J01415.2:m.10563T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361335.1:c.94T>C
ENSP00000354728.1:p.Cys32Arg
Search 100 bp 5'
Search 100 bp 3'