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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:
CA2554473569
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.21249998_21249999insTT , CM000674.2:g.21249998_21249999insTT
GRCh38
NC_000012.11:g.21402932_21402933insTT , CM000674.1:g.21402932_21402933insTT
GRCh37
NC_000012.10:g.21294199_21294200insTT
NCBI36
Search 100 bp 5'
Search 100 bp 3'