ClinGen Allele Registry
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Canonical Allele Identifier:
CA414804095
Gene: MT-CO3
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.9955T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9955T>C , J01415.2:m.9955T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000362079.2:c.749T>C
ENSP00000354982.2:p.Leu250Pro
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