ClinGen Allele Registry
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Canonical Allele Identifier:
CA913169948
Gene: MT-ND1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3639A>C , J01415.2:m.3639A>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361390.2:c.333A>C
ENSP00000354687.2:p.Leu111=
Search 100 bp 5'
Search 100 bp 3'