ClinGen Allele Registry
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Canonical Allele Identifier:
CA2573324638
Gene: MT-CO3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9954C= , J01415.2:m.9954C=
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000362079.2:c.748C=
ENSP00000354982.2:p.Leu250=
Search 100 bp 5'
Search 100 bp 3'