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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:
CA1312507905
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.182820635_182820640delinsATAACT , CM000664.2:g.182820635_182820640delinsATAACT
GRCh38
NC_000002.11:g.183685362_183685367delinsATAACT , CM000664.1:g.183685362_183685367delinsATAACT
GRCh37
NC_000002.10:g.183393607_183393612delinsATAACT
NCBI36
Search 100 bp 5'
Search 100 bp 3'