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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:
CA1541177935
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40401193_40401194delinsTG , CM000667.2:g.40401193_40401194delinsTG
GRCh38
NC_000005.9:g.40401295_40401296delinsTG , CM000667.1:g.40401295_40401296delinsTG
GRCh37
NC_000005.8:g.40437052_40437053delinsTG
NCBI36
Search 100 bp 5'
Search 100 bp 3'