Canonical Allele Identifier: CA2573105220
Gene: MT-ND4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.11516del , J01415.2:m.11516del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361381.2:c.757del ENSP00000354961.2:p.Leu253Ter
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