ClinGen Allele Registry
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Canonical Allele Identifier:
CA414823125
Gene: MT-ND6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693742
ClinVar RCV Id:
RCV000855129
dbSNP Id:
rs386829219
MyVariant Identifiers:
chrMT:g.14577T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14577T>G , J01415.2:m.14577T>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361681.2:c.97A>C
ENSP00000354665.2:p.Ile33Leu
Search 100 bp 5'
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