ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA337097297
Gene: MT-CO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
994642
ClinVar RCV Id:
RCV001288243
dbSNP Id:
rs879118820
MyVariant Identifiers:
chrMT:g.5999T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.5999T>C , J01415.2:m.5999T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361624.2:c.96T>C
ENSP00000354499.2:p.Ala32=
Search 100 bp 5'
Search 100 bp 3'