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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:
CA128828
Gene:
Linked Data
ClinVar Variation Id:
30000
ClinVar RCV Id:
RCV000022895
RCV002247379
dbSNP Id:
rs387906731
MyVariant Identifiers:
chrMT:g.10450A>G (hg38)
PubMed:
PMID:19809478
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.10450A>G , J01415.2:m.10450A>G
GRCh38
Search 100 bp 5'
Search 100 bp 3'