ClinGen Allele Registry
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Canonical Allele Identifier:
CA2499564785
Gene: MT-CO1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.6286T= , J01415.2:m.6286T=
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361624.2:c.383T=
ENSP00000354499.2:p.Val128=
Search 100 bp 5'
Search 100 bp 3'