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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:
CA2404188730
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.37110840_37110844delinsTAGAC , CM000684.2:g.37110840_37110844delinsTAGAC
GRCh38
NC_000022.10:g.37506880_37506884delinsTAGAC , CM000684.1:g.37506880_37506884delinsTAGAC
GRCh37
NC_000022.9:g.35836826_35836830delinsTAGAC
NCBI36
NG_012856.2:g.3720_3724delinsGTCTA
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