ClinGen Allele Registry
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Canonical Allele Identifier:
CA345259
Gene: MT-ND1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65921
ClinVar RCV Id:
RCV000056167
RCV002260605
dbSNP Id:
rs397515612
MyVariant Identifiers:
chrMT:g.3376G>A (hg38)
PubMed:
PMID:15657614
PMID:20301353
ERepo:
CA345259/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3376G>A , J01415.2:m.3376G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361390.2:c.70G>A
ENSP00000354687.2:p.Glu24Lys
Search 100 bp 5'
Search 100 bp 3'