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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:
CA1700647522
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.37580331_37580332delinsAC , CM000669.2:g.37580331_37580332delinsAC
GRCh38
NC_000007.13:g.37619934_37619935delinsAC , CM000669.1:g.37619934_37619935delinsAC
GRCh37
NC_000007.12:g.37586459_37586460delinsAC
NCBI36
Search 100 bp 5'
Search 100 bp 3'