Canonical Allele Identifier: CA2573104404
Gene: MT-ND1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.3992_3993del , J01415.2:m.3992_3993del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.686_687del ENSP00000354687.2:p.Thr229LysfsTer19
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