ClinGen Allele Registry
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Canonical Allele Identifier:
CA120602
Gene: MT-CO3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9656
ClinVar RCV Id:
RCV000010292
RCV000144008
dbSNP Id:
rs267606614
PubMed:
PMID:11063732
PMID:20301352
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9537dup , J01415.2:m.9537dup
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000362079.2:c.331dup
ENSP00000354982.2:p.Gln111ProfsTer?
Search 100 bp 5'
Search 100 bp 3'