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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:
CA1819059993
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.128907064_128907069delinsATATCT , CM000670.2:g.128907064_128907069delinsATATCT
GRCh38
NC_000008.10:g.129919310_129919315delinsATATCT , CM000670.1:g.129919310_129919315delinsATATCT
GRCh37
NC_000008.9:g.129988492_129988497delinsATATCT
NCBI36
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