ClinGen Allele Registry
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Canonical Allele Identifier:
CA915952057
Gene: MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693047
ClinVar RCV Id:
RCV000854391
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8993_8994delinsCA , J01415.2:m.8993_8994delinsCA
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.467_468delinsCA
ENSP00000354632.2:p.Leu156Pro
Search 100 bp 5'
Search 100 bp 3'