ClinGen Allele Registry
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Canonical Allele Identifier:
CA913179343
Gene: MT-ATP8
HGNC
NCBI
Linked Data
dbSNP Id:
rs386829038
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8521A>G , J01415.2:m.8521A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.156A>G
ENSP00000355265.1:p.Glu52=
Search 100 bp 5'
Search 100 bp 3'