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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:
CA2263595560
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.49486590_49486593delinsGTCC , CM000679.2:g.49486590_49486593delinsGTCC
GRCh38
NC_000017.10:g.47563952_47563955delinsGTCC , CM000679.1:g.47563952_47563955delinsGTCC
GRCh37
NC_000017.9:g.44918951_44918954delinsGTCC
NCBI36
Search 100 bp 5'
Search 100 bp 3'