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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:
CA1317132796
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.192877432_192877436delinsCACAT , CM000664.2:g.192877432_192877436delinsCACAT
GRCh38
NC_000002.11:g.193742158_193742162delinsCACAT , CM000664.1:g.193742158_193742162delinsCACAT
GRCh37
NC_000002.10:g.193450403_193450407delinsCACAT
NCBI36
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