ClinGen Allele Registry
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Canonical Allele Identifier:
CA913165661
Gene: MT-ND4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.11047C>T , J01415.2:m.11047C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361381.2:c.288C>T
ENSP00000354961.2:p.Leu96=
Search 100 bp 5'
Search 100 bp 3'