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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:
CA2763335731
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.121698744del , CM000666.2:g.121698744del
GRCh38
NC_000004.11:g.122619899del , CM000666.1:g.122619899del
GRCh37
NC_000004.10:g.122839349del
NCBI36
NG_032042.1:g.3250del
Search 100 bp 5'
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