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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:
CA1939669255
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.118519453_118519456delinsCAGT , CM000672.2:g.118519453_118519456delinsCAGT
GRCh38
NC_000010.10:g.120278965_120278968delinsCAGT , CM000672.1:g.120278965_120278968delinsCAGT
GRCh37
NC_000010.9:g.120268955_120268958delinsCAGT
NCBI36
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Search 100 bp 3'