ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA120615
Gene: MT-CO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9671
ClinVar RCV Id:
RCV000010309
dbSNP Id:
rs267606883
MyVariant Identifiers:
chrMT:g.6328C>T (hg38)
PubMed:
PMID:16284789
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.6328C>T , J01415.2:m.6328C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361624.2:c.425C>T
ENSP00000354499.2:p.Ser142Phe
Search 100 bp 5'
Search 100 bp 3'