ClinGen Allele Registry
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Canonical Allele Identifier:
CA120605
Gene: MT-CO2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9660
ClinVar RCV Id:
RCV000010296
dbSNP Id:
rs199474827
MyVariant Identifiers:
chrMT:g.7671T>A (hg38)
PubMed:
PMID:10486321
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.7671T>A , J01415.2:m.7671T>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361739.1:c.86T>A
ENSP00000354876.1:p.Ile29Lys
Search 100 bp 5'
Search 100 bp 3'