ClinGen Allele Registry
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Canonical Allele Identifier:
CA414809561
Gene: MT-ND4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693346
ClinVar RCV Id:
RCV000854710
dbSNP Id:
rs1603223129
MyVariant Identifiers:
chrMT:g.11144A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.11144A>T , J01415.2:m.11144A>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361381.2:c.385A>T
ENSP00000354961.2:p.Thr129Ser
Search 100 bp 5'
Search 100 bp 3'