ClinGen Allele Registry
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Canonical Allele Identifier:
CA2499567408
Gene: MT-ND4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12092C= , J01415.2:m.12092C=
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361381.2:c.1333C=
ENSP00000354961.2:p.Leu445=
Search 100 bp 5'
Search 100 bp 3'