ClinGen Allele Registry
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Canonical Allele Identifier:
CA2512993043
Gene: MT-CO1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.6376T= , J01415.2:m.6376T=
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361624.2:c.473T=
ENSP00000354499.2:p.Ile158=
Search 100 bp 5'
Search 100 bp 3'