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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:
CA2470824108
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.17086305_17086309delinsAAGAC , CM000686.2:g.17086305_17086309delinsAAGAC
GRCh38
NC_000024.9:g.19198185_19198189delinsAAGAC , CM000686.1:g.19198185_19198189delinsAAGAC
GRCh37
NC_000024.8:g.17707579_17707583delinsAAGAC
NCBI36
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