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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:
CA2094859944
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.59001266_59001269delinsTTTG , CM000675.2:g.59001266_59001269delinsTTTG
GRCh38
NC_000013.10:g.59575400_59575403delinsTTTG , CM000675.1:g.59575400_59575403delinsTTTG
GRCh37
NC_000013.9:g.58473401_58473404delinsTTTG
NCBI36
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