ClinGen Allele Registry
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Canonical Allele Identifier:
CA2499566006
Gene: MT-ATP6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8950G= , J01415.2:m.8950G=
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.424G=
ENSP00000354632.2:p.Val142=
Search 100 bp 5'
Search 100 bp 3'