ClinGen Allele Registry
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Canonical Allele Identifier:
CA2573105010
Gene: MT-ATP8
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8513_8517del , J01415.2:m.8513_8517del
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.148_152del
ENSP00000355265.1:p.Pro50ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'