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Canonical Allele Identifier:
CA414803748
Gene: MT-CO3
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.9804G>C
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000854583
ClinVar Variation:
693229
dbSNP:
200613617
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9804G>C , J01415.2:m.9804G>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000362079.2:c.598G>C
ENSP00000354982.2:p.Ala200Pro
Search 100 bp 5'
Search 100 bp 3'