ClinGen Allele Registry
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Canonical Allele Identifier:
CA414823096
Gene: MT-ND6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693738
ClinVar RCV Id:
RCV000855125
dbSNP Id:
rs1603224793
MyVariant Identifiers:
chrMT:g.14571T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14571T>A , J01415.2:m.14571T>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361681.2:c.103A>T
ENSP00000354665.2:p.Ser35Cys
Search 100 bp 5'
Search 100 bp 3'