ClinGen Allele Registry
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Canonical Allele Identifier:
CA414812658
Gene: MT-ND4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693418
ClinVar RCV Id:
RCV000854786
dbSNP Id:
rs1556424062
MyVariant Identifiers:
chrMT:g.12135C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12135C>A , J01415.2:m.12135C>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361381.2:c.1376C>A
ENSP00000354961.2:p.Ser459Tyr
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