ClinGen Allele Registry
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Canonical Allele Identifier:
CA414822972
Gene: MT-ND6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693733
ClinVar RCV Id:
RCV000855120
dbSNP Id:
rs371485573
MyVariant Identifiers:
chrMT:g.14544G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14544G>T , J01415.2:m.14544G>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361681.2:c.130C>A
ENSP00000354665.2:p.Leu44Met
Search 100 bp 5'
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