ClinGen Allele Registry
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Canonical Allele Identifier:
CA414815125
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693489
ClinVar RCV Id:
RCV000854862
dbSNP Id:
rs1603223927
MyVariant Identifiers:
chrMT:g.12842T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12842T>C , J01415.2:m.12842T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.506T>C
ENSP00000354813.2:p.Ile169Thr
Search 100 bp 5'
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