ClinGen Allele Registry
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Canonical Allele Identifier:
CA414802198
Gene: MT-ATP6
HGNC
NCBI
Linked Data
dbSNP Id:
rs1603222055
MyVariant Identifiers:
chrMT:g.9094C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9094C>A , J01415.2:m.9094C>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.568C>A
ENSP00000354632.2:p.Leu190Ile
Search 100 bp 5'
Search 100 bp 3'