ClinGen Allele Registry
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Canonical Allele Identifier:
CA414803231
Gene: MT-CO3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
439914
ClinVar RCV Id:
RCV000506479
dbSNP Id:
rs1556423691
MyVariant Identifiers:
chrMT:g.9568T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9568T>C , J01415.2:m.9568T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000362079.2:c.362T>C
ENSP00000354982.2:p.Ile121Thr
Search 100 bp 5'
Search 100 bp 3'