ClinGen Allele Registry
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Canonical Allele Identifier:
CA2573105004
Gene: MT-ATP8
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8495del , J01415.2:m.8495del
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.130del
ENSP00000355265.1:p.Ile44Ter
Search 100 bp 5'
Search 100 bp 3'