ClinGen Allele Registry
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Canonical Allele Identifier:
CA2499565734
Gene: MT-ATP8
HGNC
NCBI
MT-ATP6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8552T= , J01415.2:m.8552T=
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.187T=
(MT-ATP8)
ENSP00000355265.1:p.Ser63=
ENST00000361899.2:c.26T=
(MT-ATP6)
ENSP00000354632.2:p.Phe9=
Search 100 bp 5'
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