ClinGen Allele Registry
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Canonical Allele Identifier:
CA337096937
Gene: MT-ND2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.4697C>A (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4697C>A , J01415.2:m.4697C>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361453.3:c.228C>A
ENSP00000355046.4:p.Phe76Leu
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