ClinGen Allele Registry
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Canonical Allele Identifier:
CA337098144
Gene: MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693057
ClinVar RCV Id:
RCV000854401
dbSNP Id:
rs28681063
MyVariant Identifiers:
chrMT:g.9025G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9025G>A , J01415.2:m.9025G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.499G>A
ENSP00000354632.2:p.Gly167Ser
Search 100 bp 5'
Search 100 bp 3'