ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA340930
Gene: MT-CO3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9652
ClinVar RCV Id:
RCV000010287
RCV000756352
RCV000854582
RCV001196020
RCV004017233
dbSNP Id:
rs200613617
MyVariant Identifiers:
chrMT:g.9804G>A (hg38)
PubMed:
PMID:8240356
PMID:20301353
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9804G>A , J01415.2:m.9804G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000362079.2:c.598G>A
ENSP00000354982.2:p.Ala200Thr
Search 100 bp 5'
Search 100 bp 3'