ClinGen Allele Registry
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Canonical Allele Identifier:
CA414781175
Gene: MT-CO1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.6000C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.6000C>G , J01415.2:m.6000C>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361624.2:c.97C>G
ENSP00000354499.2:p.Leu33Val
Search 100 bp 5'
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