ClinGen Allele Registry
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Canonical Allele Identifier:
CA913179689
Gene: MT-ND2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.5501A>C , J01415.2:m.5501A>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361453.3:c.1032A>C
ENSP00000355046.4:p.Leu344=
Search 100 bp 5'
Search 100 bp 3'