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Canonical Allele Identifier:
CA337099365
Gene: MT-ND4
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.12007G>A
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003887815
ClinVar Variation:
3027422
dbSNP:
2853497
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12007G>A , J01415.2:m.12007G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361381.2:c.1248G>A
ENSP00000354961.2:p.Trp416Ter
Search 100 bp 5'
Search 100 bp 3'