ClinGen Allele Registry
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Canonical Allele Identifier:
CA337098169
Gene: MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693067
ClinVar RCV Id:
RCV000854413
RCV001796802
dbSNP Id:
rs193303045
MyVariant Identifiers:
chrMT:g.9055G>A (hg38)
ERepo:
CA337098169/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9055G>A , J01415.2:m.9055G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.529G>A
ENSP00000354632.2:p.Ala177Thr
Search 100 bp 5'
Search 100 bp 3'