ClinGen Allele Registry
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Canonical Allele Identifier:
CA2573330554
Gene: MT-ATP6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8915C= , J01415.2:m.8915C=
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.389C=
ENSP00000354632.2:p.Pro130=
Search 100 bp 5'
Search 100 bp 3'