ClinGen Allele Registry
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Canonical Allele Identifier:
CA414822609
Gene: MT-ND6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693727
ClinVar RCV Id:
RCV000855112
dbSNP Id:
rs1603224741
MyVariant Identifiers:
chrMT:g.14466T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14466T>C , J01415.2:m.14466T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361681.2:c.208A>G
ENSP00000354665.2:p.Thr70Ala
Search 100 bp 5'
Search 100 bp 3'