ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA414781114
Gene: MT-CO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692605
ClinVar RCV Id:
RCV000853924
dbSNP Id:
rs386828982
MyVariant Identifiers:
chrMT:g.5985G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.5985G>A , J01415.2:m.5985G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361624.2:c.82G>A
ENSP00000354499.2:p.Val28Ile
Search 100 bp 5'
Search 100 bp 3'