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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:
CA2673081022
Gene:
Linked Data
gnomAD v4:
5-1295088-AGGGGAGGGGCTGGGAGGGCCCGGAGGGGGCTGGGCCGGGGACCCGGGAGGGGTC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1295092_1295145del , CM000667.2:g.1295092_1295145del
GRCh38
NC_000005.9:g.1295207_1295260del , CM000667.1:g.1295207_1295260del
GRCh37
NC_000005.8:g.1348207_1348260del
NCBI36
NG_009265.1:g.4906_4959del , LRG_343:g.4906_4959del
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