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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:
CA2429220992
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.51487073_51487077delinsGTAAA , CM000685.2:g.51487073_51487077delinsGTAAA
GRCh38
NC_000023.10:g.51229925_51229929delinsGTAAA , CM000685.1:g.51229925_51229929delinsGTAAA
GRCh37
NC_000023.9:g.51246665_51246669delinsGTAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'