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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:
CA2485026948
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.211379705_211379712delinsGCTAGGAT , CM000663.2:g.211379705_211379712delinsGCTAGGAT
GRCh38
NC_000001.10:g.211553047_211553054delinsGCTAGGAT , CM000663.1:g.211553047_211553054delinsGCTAGGAT
GRCh37
NC_000001.9:g.209619670_209619677delinsGCTAGGAT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001738446.1:n.291+2483_291+2490delinsATCCTAGC
Search 100 bp 5'
Search 100 bp 3'