ClinGen Allele Registry
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Canonical Allele Identifier:
CA2573104434
Gene: MT-ND1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3311_3312dup , J01415.2:m.3311_3312dup
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.5_6dup
ENSP00000354687.2:p.Met3ProfsTer13
Search 100 bp 5'
Search 100 bp 3'