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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:
CA2115403247
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.103275601_103275605delinsTTGAA , CM000675.2:g.103275601_103275605delinsTTGAA
GRCh38
NC_000013.10:g.103927951_103927955delinsTTGAA , CM000675.1:g.103927951_103927955delinsTTGAA
GRCh37
NC_000013.9:g.102725952_102725956delinsTTGAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'