ClinGen Allele Registry
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Canonical Allele Identifier:
CA356574
Gene: MT-ND6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65514
ClinVar RCV Id:
RCV000055702
RCV000855115
dbSNP Id:
rs869025186
MyVariant Identifiers:
chrMT:g.14498T>C (hg38)
PubMed:
PMID:20301353
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14498T>C , J01415.2:m.14498T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361681.2:c.176A>G
ENSP00000354665.2:p.Tyr59Cys
Search 100 bp 5'
Search 100 bp 3'