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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:
CA2419992506
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.24351230_24351232delinsCAA , CM000685.2:g.24351230_24351232delinsCAA
GRCh38
NC_000023.10:g.24369347_24369349delinsCAA , CM000685.1:g.24369347_24369349delinsCAA
GRCh37
NC_000023.9:g.24279268_24279270delinsCAA
NCBI36
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