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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:
CA1225887987
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.228861980_228861981delinsGA , CM000663.2:g.228861980_228861981delinsGA
GRCh38
NC_000001.10:g.228997727_228997728delinsGA , CM000663.1:g.228997727_228997728delinsGA
GRCh37
NC_000001.9:g.227064350_227064351delinsGA
NCBI36
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