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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:
CA2239803041
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.86347606_86347607delinsGT , CM000678.2:g.86347606_86347607delinsGT
GRCh38
NC_000016.9:g.86381212_86381213delinsGT , CM000678.1:g.86381212_86381213delinsGT
GRCh37
NC_000016.8:g.84938713_84938714delinsGT
NCBI36
Search 100 bp 5'
Search 100 bp 3'