ClinGen Allele Registry
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Canonical Allele Identifier:
CA2499565719
Gene: MT-ATP8
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8525A= , J01415.2:m.8525A=
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.160A=
ENSP00000355265.1:p.Lys54=
Search 100 bp 5'
Search 100 bp 3'