ClinGen Allele Registry
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Canonical Allele Identifier:
CA414779645
Gene: MT-ND2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.5280A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.5280A>T , J01415.2:m.5280A>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361453.3:c.811A>T
ENSP00000355046.4:p.Thr271Ser
Search 100 bp 5'
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