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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:
CA1491948235
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.126075707_126075709delinsTAA , CM000666.2:g.126075707_126075709delinsTAA
GRCh38
NC_000004.11:g.126996862_126996864delinsTAA , CM000666.1:g.126996862_126996864delinsTAA
GRCh37
NC_000004.10:g.127216312_127216314delinsTAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'