ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA120611
Gene: MT-CO1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.6480G>A
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010304
RCV000853974
RCV003985072
ClinVar Variation:
9666
dbSNP:
199476128
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.6480G>A , J01415.2:m.6480G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361624.2:c.577G>A
ENSP00000354499.2:p.Val193Ile
Search 100 bp 5'
Search 100 bp 3'