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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:
CA2501735605
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.117158806del , CM000666.2:g.117158806del
GRCh38
NC_000004.11:g.118079962del , CM000666.1:g.118079962del
GRCh37
NC_000004.10:g.118299410del
NCBI36
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