ClinGen Allele Registry
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Canonical Allele Identifier:
CA414821268
Gene: MT-ND6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693683
ClinVar RCV Id:
RCV000855063
dbSNP Id:
rs200933339
MyVariant Identifiers:
chrMT:g.14180T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14180T>G , J01415.2:m.14180T>G
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361681.2:c.494A>C
ENSP00000354665.2:p.Tyr165Ser
Search 100 bp 5'
Search 100 bp 3'