ClinGen Allele Registry
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Canonical Allele Identifier:
CA337099554
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693490
ClinVar RCV Id:
RCV000854863
dbSNP Id:
rs28705385
MyVariant Identifiers:
chrMT:g.12850A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12850A>G , J01415.2:m.12850A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.514A>G
ENSP00000354813.2:p.Ile172Val
Search 100 bp 5'
Search 100 bp 3'