ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA337097339
Gene: MT-CO1
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.6185T>C
Linked Data - NCBI & NCI
dbSNP:
1029272
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.6185T>C , J01415.2:m.6185T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361624.2:c.282T>C
ENSP00000354499.2:p.Phe94=
Search 100 bp 5'
Search 100 bp 3'