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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:
CA1373744074
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.70577240_70577242delinsCTA , CM000665.2:g.70577240_70577242delinsCTA
GRCh38
NC_000003.11:g.70626391_70626393delinsCTA , CM000665.1:g.70626391_70626393delinsCTA
GRCh37
NC_000003.10:g.70709081_70709083delinsCTA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940947.1:n.406+1276_406+1278delinsTAG
XR_001740559.1:n.366+1276_366+1278delinsTAG
Search 100 bp 5'
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