ClinGen Allele Registry
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Canonical Allele Identifier:
CA340938
Gene: MT-ND4L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9707
ClinVar RCV Id:
RCV000010353
RCV003153302
dbSNP Id:
rs1556423844
MyVariant Identifiers:
chrMT:g.10663T>C (hg38)
PubMed:
PMID:11935318
PMID:20301353
ERepo:
CA340938/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.10663T>C , J01415.2:m.10663T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361335.1:c.194T>C
ENSP00000354728.1:p.Val65Ala
Search 100 bp 5'
Search 100 bp 3'