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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:
CA2248032467
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.12144270_12144271delinsGA , CM000679.2:g.12144270_12144271delinsGA
GRCh38
NC_000017.10:g.12047587_12047588delinsGA , CM000679.1:g.12047587_12047588delinsGA
GRCh37
NC_000017.9:g.11988312_11988313delinsGA
NCBI36
NG_033952.1:g.128453_128454delinsGA
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