ClinGen Allele Registry
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Canonical Allele Identifier:
CA345917
Gene: MT-ND4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
155888
ClinVar RCV Id:
RCV000144014
dbSNP Id:
rs200911567
MyVariant Identifiers:
chrMT:g.11984T>C (hg38)
PubMed:
PMID:17022785
PMID:20301352
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.11984T>C , J01415.2:m.11984T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361381.2:c.1225T>C
ENSP00000354961.2:p.Tyr409His
Search 100 bp 5'
Search 100 bp 3'