ClinGen Allele Registry
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Canonical Allele Identifier:
CA913180837
Gene: MT-CO1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2068696380
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.5948T>C , J01415.2:m.5948T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361624.2:c.45T>C
ENSP00000354499.2:p.Ile15=
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