ClinGen Allele Registry
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Canonical Allele Identifier:
CA16043602
Gene: MT-ND6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374080
ClinVar RCV Id:
RCV000415203
RCV000855133
dbSNP Id:
rs1057518882
MyVariant Identifiers:
chrMT:g.14598T>C (hg38)
ERepo:
CA16043602/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14598T>C , J01415.2:m.14598T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361681.2:c.76A>G
ENSP00000354665.2:p.Ile26Val
Search 100 bp 5'
Search 100 bp 3'