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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:
CA2673081066
Gene:
Linked Data
gnomAD v4:
5-1295133-GGGAGGGGTCGGGAC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1295136_1295149del , CM000667.2:g.1295136_1295149del
GRCh38
NC_000005.9:g.1295251_1295264del , CM000667.1:g.1295251_1295264del
GRCh37
NC_000005.8:g.1348251_1348264del
NCBI36
NG_009265.1:g.4901_4914del , LRG_343:g.4901_4914del
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