ClinGen Allele Registry
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Canonical Allele Identifier:
CA337098212
Gene: MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693088
ClinVar RCV Id:
RCV000854435
dbSNP Id:
rs201559119
MyVariant Identifiers:
chrMT:g.9098T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9098T>C , J01415.2:m.9098T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.572T>C
ENSP00000354632.2:p.Ile191Thr
Search 100 bp 5'
Search 100 bp 3'