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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2740098259
Gene: MT-CO3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9546_9548dup , J01415.2:m.9546_9548dup
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000362079.2:c.340_342dup
ENSP00000354982.2:p.Gly114_His115insGly
Search 100 bp 5'
Search 100 bp 3'