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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:
CA1237913012
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.22345794_22345798delinsTAAAC , CM000664.2:g.22345794_22345798delinsTAAAC
GRCh38
NC_000002.11:g.22568666_22568670delinsTAAAC , CM000664.1:g.22568666_22568670delinsTAAAC
GRCh37
NC_000002.10:g.22422171_22422175delinsTAAAC
NCBI36
Search 100 bp 5'
Search 100 bp 3'