ClinGen Allele Registry
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Canonical Allele Identifier:
CA254850
Gene: MT-CO3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9651
ClinVar RCV Id:
RCV000010286
RCV000854514
dbSNP Id:
rs267606611
MyVariant Identifiers:
chrMT:g.9438G>A (hg38)
PubMed:
PMID:7573056
PMID:7804416
PMID:8240356
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9438G>A , J01415.2:m.9438G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000362079.2:c.232G>A
ENSP00000354982.2:p.Gly78Ser
Search 100 bp 5'
Search 100 bp 3'