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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:
CA945494937
Gene:
Linked Data
gnomAD v3:
12-21249951-G-GTTTTTTTTTTTTTT
gnomAD v4:
12-21249951-G-GTTTTTTTTTTTTTT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.21249952_21249953insTTTTTTTTTTTTTT , CM000674.2:g.21249952_21249953insTTTTTTTTTTTTTT
GRCh38
NC_000012.11:g.21402886_21402887insTTTTTTTTTTTTTT , CM000674.1:g.21402886_21402887insTTTTTTTTTTTTTT
GRCh37
NC_000012.10:g.21294153_21294154insTTTTTTTTTTTTTT
NCBI36
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