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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:
CA1485616060
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.111690593_111690594delinsAT , CM000666.2:g.111690593_111690594delinsAT
GRCh38
NC_000004.11:g.112611749_112611750delinsAT , CM000666.1:g.112611749_112611750delinsAT
GRCh37
NC_000004.10:g.112831198_112831199delinsAT
NCBI36
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