ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA250586
Gene: MT-CO1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.7275T>C
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010311
ClinVar Variation:
9673
dbSNP:
267606884
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.7275T>C , J01415.2:m.7275T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361624.2:c.1372T>C
ENSP00000354499.2:p.Ser458Pro
Search 100 bp 5'
Search 100 bp 3'