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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:
CA913179052
Gene:
Linked Data
ClinVar Variation Id:
690079
ClinVar RCV Id:
RCV000850954
RCV000992386
dbSNP Id:
rs1556423430
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8348A>G , J01415.2:m.8348A>G
GRCh38
Search 100 bp 5'
Search 100 bp 3'