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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:
CA1819060001
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.128907076_128907080delinsGCTCT , CM000670.2:g.128907076_128907080delinsGCTCT
GRCh38
NC_000008.10:g.129919322_129919326delinsGCTCT , CM000670.1:g.129919322_129919326delinsGCTCT
GRCh37
NC_000008.9:g.129988504_129988508delinsGCTCT
NCBI36
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