Canonical Allele Identifier: CA2740098370
Gene: MT-ND5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12372_12414del , J01415.2:m.12372_12414del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.36_78del ENSP00000354813.2:p.Ser14LysfsTer9
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