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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:
CA2216867349
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.31099718_31099722delinsTTTTC , CM000678.2:g.31099718_31099722delinsTTTTC
GRCh38
NC_000016.9:g.31111039_31111043delinsTTTTC , CM000678.1:g.31111039_31111043delinsTTTTC
GRCh37
NC_000016.8:g.31018540_31018544delinsTTTTC
NCBI36
NG_011564.1:g.234_238delinsGAAAA
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