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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:
CA2562297247
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.67096288_67096289insCTCT , CM000685.2:g.67096288_67096289insCTCT
GRCh38
NC_000023.10:g.66316130_66316131insCTCT , CM000685.1:g.66316130_66316131insCTCT
GRCh37
NC_000023.9:g.66232855_66232856insCTCT
NCBI36
Search 100 bp 5'
Search 100 bp 3'