ClinGen Allele Registry
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Canonical Allele Identifier:
CA2499568494
Gene: MT-ND6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14453G= , J01415.2:m.14453G=
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361681.2:c.221C=
ENSP00000354665.2:p.Ala74=
Search 100 bp 5'
Search 100 bp 3'