ClinGen Allele Registry
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Canonical Allele Identifier:
CA337096513
Gene: MT-ND1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692341
ClinVar RCV Id:
RCV000853641
dbSNP Id:
rs879193727
MyVariant Identifiers:
chrMT:g.3349A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3349A>G , J01415.2:m.3349A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.43A>G
ENSP00000354687.2:p.Ile15Val
Search 100 bp 5'
Search 100 bp 3'