ClinGen Allele Registry
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Canonical Allele Identifier:
CA2499566129
Gene: MT-ATP6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9122T= , J01415.2:m.9122T=
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.596T=
ENSP00000354632.2:p.Leu199=
Search 100 bp 5'
Search 100 bp 3'