ClinGen Allele Registry
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Canonical Allele Identifier:
CA344823
Gene: MT-ND6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65512
ClinVar RCV Id:
RCV000055700
RCV000855092
dbSNP Id:
rs397515505
COSMIC:
COSM1155553
COSM1155554
MyVariant Identifiers:
chrMT:g.14325T>C (hg38)
PubMed:
PMID:20301353
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14325T>C , J01415.2:m.14325T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361681.2:c.349A>G
ENSP00000354665.2:p.Asn117Asp
Search 100 bp 5'
Search 100 bp 3'