Canonical Allele Identifier: CA2573105007
Gene: MT-ATP8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8504_8506del , J01415.2:m.8504_8506del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.139_141del ENSP00000355265.1:p.Tyr47del
Search 100 bp 5'
Search 100 bp 3'