ClinGen Allele Registry
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Canonical Allele Identifier:
CA414802208
Gene: MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693089
ClinVar RCV Id:
RCV000854436
dbSNP Id:
rs201559119
MyVariant Identifiers:
chrMT:g.9098T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9098T>G , J01415.2:m.9098T>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.572T>G
ENSP00000354632.2:p.Ile191Ser
Search 100 bp 5'
Search 100 bp 3'