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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:
CA2470799861
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.16776145_16776149delinsCATCT , CM000686.2:g.16776145_16776149delinsCATCT
GRCh38
NC_000024.9:g.18888025_18888029delinsCATCT , CM000686.1:g.18888025_18888029delinsCATCT
GRCh37
NC_000024.8:g.17397419_17397423delinsCATCT
NCBI36
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