ClinGen Allele Registry
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Canonical Allele Identifier:
CA340945
Gene: MT-ND1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9728
ClinVar RCV Id:
RCV000010379
RCV000010380
RCV000239184
RCV000853627
dbSNP Id:
rs28358582
MyVariant Identifiers:
chrMT:g.3308T>C (hg38)
PubMed:
PMID:9806551
PMID:10519336
PMID:10521313
PMID:13298683
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3308T>C , J01415.2:m.3308T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.2T>C
ENSP00000354687.2:p.Ile1Thr
Search 100 bp 5'
Search 100 bp 3'