ClinGen Allele Registry
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Canonical Allele Identifier:
CA120596
Gene: MT-ATP6
HGNC
NCBI
Linked Data - Other
Linked-Data Service Error:
Error
Failed to retrieve aggregated linked-data
Status
NodeJS Error object: timeout of 3500ms exceeded
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8993T>C , J01415.2:m.8993T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.467T>C
ENSP00000354632.2:p.Leu156Pro
Search 100 bp 5'
Search 100 bp 3'