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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:
CA414780655
Gene:
Linked Data
ClinVar Variation Id:
689941
ClinVar RCV Id:
RCV000850795
RCV001796795
dbSNP Id:
rs370471013
MyVariant Identifiers:
chrMT:g.5558A>G (hg38)
ERepo:
CA414780655/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.5558A>G , J01415.2:m.5558A>G
GRCh38
Search 100 bp 5'
Search 100 bp 3'