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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:
CA1300469001
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.156346771_156346773delinsGAC , CM000664.2:g.156346771_156346773delinsGAC
GRCh38
NC_000002.11:g.157203283_157203285delinsGAC , CM000664.1:g.157203283_157203285delinsGAC
GRCh37
NC_000002.10:g.156911529_156911531delinsGAC
NCBI36
Search 100 bp 5'
Search 100 bp 3'