ClinGen Allele Registry
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Canonical Allele Identifier:
CA414823283
Gene: MT-ND6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693746
ClinVar RCV Id:
RCV000855135
dbSNP Id:
rs1603224810
MyVariant Identifiers:
chrMT:g.14615G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14615G>A , J01415.2:m.14615G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361681.2:c.59C>T
ENSP00000354665.2:p.Ser20Phe
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