ClinGen Allele Registry
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Canonical Allele Identifier:
CA414780632
Gene: MT-ND2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.5508T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.5508T>G , J01415.2:m.5508T>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361453.3:c.1039T>G
ENSP00000355046.4:p.Leu347Val
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