ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA913180603
Gene: MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693008
ClinVar RCV Id:
RCV000854348
dbSNP Id:
rs1556423556
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8868T>A , J01415.2:m.8868T>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.342T>A
ENSP00000354632.2:p.Ile114=
Search 100 bp 5'
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