ClinGen Allele Registry
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Canonical Allele Identifier:
CA337097420
Gene: MT-CO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692652
ClinVar RCV Id:
RCV000853975
dbSNP Id:
rs28721398
MyVariant Identifiers:
chrMT:g.6481T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.6481T>C , J01415.2:m.6481T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361624.2:c.578T>C
ENSP00000354499.2:p.Val193Ala
Search 100 bp 5'
Search 100 bp 3'