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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:
CA913190832
Gene: MT-CO3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
599027
ClinVar RCV Id:
RCV000735429
dbSNP Id:
rs1569484301
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9443_9444insTTT , J01415.2:m.9443_9444insTTT
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000362079.2:c.237_238insTTT
ENSP00000354982.2:p.Leu79_Arg80insPhe
Search 100 bp 5'
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