ClinGen Allele Registry
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Canonical Allele Identifier:
CA414801832
Gene: MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693050
ClinVar RCV Id:
RCV000854394
dbSNP Id:
rs1603221971
MyVariant Identifiers:
chrMT:g.9005T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9005T>C , J01415.2:m.9005T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.479T>C
ENSP00000354632.2:p.Leu160Pro
Search 100 bp 5'
Search 100 bp 3'